Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads to accumulation of poorly branched glycogen k...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Koch, Rebecca L. [verfasserIn] Soler-Alfonso, Claudia [verfasserIn] Kiely, Bridget T. [verfasserIn] Asai, Akihiro [verfasserIn] Smith, Ariana L. [verfasserIn] Bali, Deeksha S. [verfasserIn] Kang, Peter B. [verfasserIn] Landstrom, Andrew P. [verfasserIn] Akman, H. Orhan [verfasserIn] Burrow, T. Andrew [verfasserIn] Orthmann-Murphy, Jennifer L. [verfasserIn] Goldman, Deberah S. [verfasserIn] Pendyal, Surekha [verfasserIn] El-Gharbawy, Areeg H. [verfasserIn] Austin, Stephanie L. [verfasserIn] Case, Laura E. [verfasserIn] Schiffmann, Raphael [verfasserIn] Hirano, Michio [verfasserIn] Kishnani, Priya S. [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2023 |
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| Schlagwörter: |
Glycogen storage disease type IV |
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| Übergeordnetes Werk: |
Enthalten in: Molecular genetics and metabolism - Orlando, Fla. : Academic Press, 1998, 138 |
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| Übergeordnetes Werk: |
volume:138 |
| DOI / URN: |
10.1016/j.ymgme.2023.107525 |
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| Katalog-ID: |
ELV062338900 |
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| 245 | 1 | 0 | |a Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource |
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| 520 | |a Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads to accumulation of poorly branched glycogen known as polyglucosan. GSD IV is characterized by a remarkable degree of phenotypic heterogeneity with presentations in utero, during infancy, early childhood, adolescence, or middle to late adulthood. The clinical continuum encompasses hepatic, cardiac, muscular, and neurologic manifestations that range in severity. The adult-onset form of GSD IV, referred to as adult polyglucosan body disease (APBD), is a neurodegenerative disease characterized by neurogenic bladder, spastic paraparesis, and peripheral neuropathy. There are currently no consensus guidelines for the diagnosis and management of these patients, resulting in high rates of misdiagnosis, delayed diagnosis, and lack of standardized clinical care. To address this, a group of experts from the United States developed a set of recommendations for the diagnosis and management of all clinical phenotypes of GSD IV, including APBD, to support clinicians and caregivers who provide long-term care for individuals with GSD IV. The educational resource includes practical steps to confirm a GSD IV diagnosis and best practices for medical management, including (a) imaging of the liver, heart, skeletal muscle, brain, and spine, (b) functional and neuromusculoskeletal assessments, (c) laboratory investigations, (d) liver and heart transplantation, and (e) long-term follow-up care. Remaining knowledge gaps are detailed to emphasize areas for improvement and future research. | ||
| 650 | 4 | |a Glycogen branching enzyme | |
| 650 | 4 | |a Glycogen storage disease type IV | |
| 650 | 4 | |a Andersen disease | |
| 650 | 4 | |a Adult polyglucosan body disease | |
| 650 | 4 | |a Clinical practice guideline | |
| 650 | 4 | |a Management guideline | |
| 650 | 4 | |a Diagnosis guideline | |
| 700 | 1 | |a Soler-Alfonso, Claudia |e verfasserin |4 aut | |
| 700 | 1 | |a Kiely, Bridget T. |e verfasserin |4 aut | |
| 700 | 1 | |a Asai, Akihiro |e verfasserin |4 aut | |
| 700 | 1 | |a Smith, Ariana L. |e verfasserin |4 aut | |
| 700 | 1 | |a Bali, Deeksha S. |e verfasserin |4 aut | |
| 700 | 1 | |a Kang, Peter B. |e verfasserin |4 aut | |
| 700 | 1 | |a Landstrom, Andrew P. |e verfasserin |4 aut | |
| 700 | 1 | |a Akman, H. Orhan |e verfasserin |4 aut | |
| 700 | 1 | |a Burrow, T. Andrew |e verfasserin |4 aut | |
| 700 | 1 | |a Orthmann-Murphy, Jennifer L. |e verfasserin |4 aut | |
| 700 | 1 | |a Goldman, Deberah S. |e verfasserin |4 aut | |
| 700 | 1 | |a Pendyal, Surekha |e verfasserin |4 aut | |
| 700 | 1 | |a El-Gharbawy, Areeg H. |e verfasserin |4 aut | |
| 700 | 1 | |a Austin, Stephanie L. |e verfasserin |4 aut | |
| 700 | 1 | |a Case, Laura E. |e verfasserin |4 aut | |
| 700 | 1 | |a Schiffmann, Raphael |e verfasserin |4 aut | |
| 700 | 1 | |a Hirano, Michio |e verfasserin |4 aut | |
| 700 | 1 | |a Kishnani, Priya S. |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Molecular genetics and metabolism |d Orlando, Fla. : Academic Press, 1998 |g 138 |h Online-Ressource |w (DE-627)268125260 |w (DE-600)1471393-7 |w (DE-576)106869493 |x 1096-7206 |7 nnns |
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10.1016/j.ymgme.2023.107525 doi (DE-627)ELV062338900 (ELSEVIER)S1096-7192(23)00155-5 DE-627 ger DE-627 rda eng 610 VZ 42.13 bkl 44.33 bkl Koch, Rebecca L. verfasserin aut Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads to accumulation of poorly branched glycogen known as polyglucosan. GSD IV is characterized by a remarkable degree of phenotypic heterogeneity with presentations in utero, during infancy, early childhood, adolescence, or middle to late adulthood. The clinical continuum encompasses hepatic, cardiac, muscular, and neurologic manifestations that range in severity. The adult-onset form of GSD IV, referred to as adult polyglucosan body disease (APBD), is a neurodegenerative disease characterized by neurogenic bladder, spastic paraparesis, and peripheral neuropathy. There are currently no consensus guidelines for the diagnosis and management of these patients, resulting in high rates of misdiagnosis, delayed diagnosis, and lack of standardized clinical care. To address this, a group of experts from the United States developed a set of recommendations for the diagnosis and management of all clinical phenotypes of GSD IV, including APBD, to support clinicians and caregivers who provide long-term care for individuals with GSD IV. The educational resource includes practical steps to confirm a GSD IV diagnosis and best practices for medical management, including (a) imaging of the liver, heart, skeletal muscle, brain, and spine, (b) functional and neuromusculoskeletal assessments, (c) laboratory investigations, (d) liver and heart transplantation, and (e) long-term follow-up care. Remaining knowledge gaps are detailed to emphasize areas for improvement and future research. Glycogen branching enzyme Glycogen storage disease type IV Andersen disease Adult polyglucosan body disease Clinical practice guideline Management guideline Diagnosis guideline Soler-Alfonso, Claudia verfasserin aut Kiely, Bridget T. verfasserin aut Asai, Akihiro verfasserin aut Smith, Ariana L. verfasserin aut Bali, Deeksha S. verfasserin aut Kang, Peter B. verfasserin aut Landstrom, Andrew P. verfasserin aut Akman, H. Orhan verfasserin aut Burrow, T. Andrew verfasserin aut Orthmann-Murphy, Jennifer L. verfasserin aut Goldman, Deberah S. verfasserin aut Pendyal, Surekha verfasserin aut El-Gharbawy, Areeg H. verfasserin aut Austin, Stephanie L. verfasserin aut Case, Laura E. verfasserin aut Schiffmann, Raphael verfasserin aut Hirano, Michio verfasserin aut Kishnani, Priya S. verfasserin aut Enthalten in Molecular genetics and metabolism Orlando, Fla. : Academic Press, 1998 138 Online-Ressource (DE-627)268125260 (DE-600)1471393-7 (DE-576)106869493 1096-7206 nnns volume:138 GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 42.13 Molekularbiologie VZ 44.33 Physiologische Chemie VZ AR 138 |
| spelling |
10.1016/j.ymgme.2023.107525 doi (DE-627)ELV062338900 (ELSEVIER)S1096-7192(23)00155-5 DE-627 ger DE-627 rda eng 610 VZ 42.13 bkl 44.33 bkl Koch, Rebecca L. verfasserin aut Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads to accumulation of poorly branched glycogen known as polyglucosan. GSD IV is characterized by a remarkable degree of phenotypic heterogeneity with presentations in utero, during infancy, early childhood, adolescence, or middle to late adulthood. The clinical continuum encompasses hepatic, cardiac, muscular, and neurologic manifestations that range in severity. The adult-onset form of GSD IV, referred to as adult polyglucosan body disease (APBD), is a neurodegenerative disease characterized by neurogenic bladder, spastic paraparesis, and peripheral neuropathy. There are currently no consensus guidelines for the diagnosis and management of these patients, resulting in high rates of misdiagnosis, delayed diagnosis, and lack of standardized clinical care. To address this, a group of experts from the United States developed a set of recommendations for the diagnosis and management of all clinical phenotypes of GSD IV, including APBD, to support clinicians and caregivers who provide long-term care for individuals with GSD IV. The educational resource includes practical steps to confirm a GSD IV diagnosis and best practices for medical management, including (a) imaging of the liver, heart, skeletal muscle, brain, and spine, (b) functional and neuromusculoskeletal assessments, (c) laboratory investigations, (d) liver and heart transplantation, and (e) long-term follow-up care. Remaining knowledge gaps are detailed to emphasize areas for improvement and future research. Glycogen branching enzyme Glycogen storage disease type IV Andersen disease Adult polyglucosan body disease Clinical practice guideline Management guideline Diagnosis guideline Soler-Alfonso, Claudia verfasserin aut Kiely, Bridget T. verfasserin aut Asai, Akihiro verfasserin aut Smith, Ariana L. verfasserin aut Bali, Deeksha S. verfasserin aut Kang, Peter B. verfasserin aut Landstrom, Andrew P. verfasserin aut Akman, H. Orhan verfasserin aut Burrow, T. Andrew verfasserin aut Orthmann-Murphy, Jennifer L. verfasserin aut Goldman, Deberah S. verfasserin aut Pendyal, Surekha verfasserin aut El-Gharbawy, Areeg H. verfasserin aut Austin, Stephanie L. verfasserin aut Case, Laura E. verfasserin aut Schiffmann, Raphael verfasserin aut Hirano, Michio verfasserin aut Kishnani, Priya S. verfasserin aut Enthalten in Molecular genetics and metabolism Orlando, Fla. : Academic Press, 1998 138 Online-Ressource (DE-627)268125260 (DE-600)1471393-7 (DE-576)106869493 1096-7206 nnns volume:138 GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 42.13 Molekularbiologie VZ 44.33 Physiologische Chemie VZ AR 138 |
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10.1016/j.ymgme.2023.107525 doi (DE-627)ELV062338900 (ELSEVIER)S1096-7192(23)00155-5 DE-627 ger DE-627 rda eng 610 VZ 42.13 bkl 44.33 bkl Koch, Rebecca L. verfasserin aut Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads to accumulation of poorly branched glycogen known as polyglucosan. GSD IV is characterized by a remarkable degree of phenotypic heterogeneity with presentations in utero, during infancy, early childhood, adolescence, or middle to late adulthood. The clinical continuum encompasses hepatic, cardiac, muscular, and neurologic manifestations that range in severity. The adult-onset form of GSD IV, referred to as adult polyglucosan body disease (APBD), is a neurodegenerative disease characterized by neurogenic bladder, spastic paraparesis, and peripheral neuropathy. There are currently no consensus guidelines for the diagnosis and management of these patients, resulting in high rates of misdiagnosis, delayed diagnosis, and lack of standardized clinical care. To address this, a group of experts from the United States developed a set of recommendations for the diagnosis and management of all clinical phenotypes of GSD IV, including APBD, to support clinicians and caregivers who provide long-term care for individuals with GSD IV. The educational resource includes practical steps to confirm a GSD IV diagnosis and best practices for medical management, including (a) imaging of the liver, heart, skeletal muscle, brain, and spine, (b) functional and neuromusculoskeletal assessments, (c) laboratory investigations, (d) liver and heart transplantation, and (e) long-term follow-up care. Remaining knowledge gaps are detailed to emphasize areas for improvement and future research. Glycogen branching enzyme Glycogen storage disease type IV Andersen disease Adult polyglucosan body disease Clinical practice guideline Management guideline Diagnosis guideline Soler-Alfonso, Claudia verfasserin aut Kiely, Bridget T. verfasserin aut Asai, Akihiro verfasserin aut Smith, Ariana L. verfasserin aut Bali, Deeksha S. verfasserin aut Kang, Peter B. verfasserin aut Landstrom, Andrew P. verfasserin aut Akman, H. Orhan verfasserin aut Burrow, T. Andrew verfasserin aut Orthmann-Murphy, Jennifer L. verfasserin aut Goldman, Deberah S. verfasserin aut Pendyal, Surekha verfasserin aut El-Gharbawy, Areeg H. verfasserin aut Austin, Stephanie L. verfasserin aut Case, Laura E. verfasserin aut Schiffmann, Raphael verfasserin aut Hirano, Michio verfasserin aut Kishnani, Priya S. verfasserin aut Enthalten in Molecular genetics and metabolism Orlando, Fla. : Academic Press, 1998 138 Online-Ressource (DE-627)268125260 (DE-600)1471393-7 (DE-576)106869493 1096-7206 nnns volume:138 GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 42.13 Molekularbiologie VZ 44.33 Physiologische Chemie VZ AR 138 |
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10.1016/j.ymgme.2023.107525 doi (DE-627)ELV062338900 (ELSEVIER)S1096-7192(23)00155-5 DE-627 ger DE-627 rda eng 610 VZ 42.13 bkl 44.33 bkl Koch, Rebecca L. verfasserin aut Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads to accumulation of poorly branched glycogen known as polyglucosan. GSD IV is characterized by a remarkable degree of phenotypic heterogeneity with presentations in utero, during infancy, early childhood, adolescence, or middle to late adulthood. The clinical continuum encompasses hepatic, cardiac, muscular, and neurologic manifestations that range in severity. The adult-onset form of GSD IV, referred to as adult polyglucosan body disease (APBD), is a neurodegenerative disease characterized by neurogenic bladder, spastic paraparesis, and peripheral neuropathy. There are currently no consensus guidelines for the diagnosis and management of these patients, resulting in high rates of misdiagnosis, delayed diagnosis, and lack of standardized clinical care. To address this, a group of experts from the United States developed a set of recommendations for the diagnosis and management of all clinical phenotypes of GSD IV, including APBD, to support clinicians and caregivers who provide long-term care for individuals with GSD IV. The educational resource includes practical steps to confirm a GSD IV diagnosis and best practices for medical management, including (a) imaging of the liver, heart, skeletal muscle, brain, and spine, (b) functional and neuromusculoskeletal assessments, (c) laboratory investigations, (d) liver and heart transplantation, and (e) long-term follow-up care. Remaining knowledge gaps are detailed to emphasize areas for improvement and future research. Glycogen branching enzyme Glycogen storage disease type IV Andersen disease Adult polyglucosan body disease Clinical practice guideline Management guideline Diagnosis guideline Soler-Alfonso, Claudia verfasserin aut Kiely, Bridget T. verfasserin aut Asai, Akihiro verfasserin aut Smith, Ariana L. verfasserin aut Bali, Deeksha S. verfasserin aut Kang, Peter B. verfasserin aut Landstrom, Andrew P. verfasserin aut Akman, H. Orhan verfasserin aut Burrow, T. Andrew verfasserin aut Orthmann-Murphy, Jennifer L. verfasserin aut Goldman, Deberah S. verfasserin aut Pendyal, Surekha verfasserin aut El-Gharbawy, Areeg H. verfasserin aut Austin, Stephanie L. verfasserin aut Case, Laura E. verfasserin aut Schiffmann, Raphael verfasserin aut Hirano, Michio verfasserin aut Kishnani, Priya S. verfasserin aut Enthalten in Molecular genetics and metabolism Orlando, Fla. : Academic Press, 1998 138 Online-Ressource (DE-627)268125260 (DE-600)1471393-7 (DE-576)106869493 1096-7206 nnns volume:138 GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 42.13 Molekularbiologie VZ 44.33 Physiologische Chemie VZ AR 138 |
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10.1016/j.ymgme.2023.107525 doi (DE-627)ELV062338900 (ELSEVIER)S1096-7192(23)00155-5 DE-627 ger DE-627 rda eng 610 VZ 42.13 bkl 44.33 bkl Koch, Rebecca L. verfasserin aut Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads to accumulation of poorly branched glycogen known as polyglucosan. GSD IV is characterized by a remarkable degree of phenotypic heterogeneity with presentations in utero, during infancy, early childhood, adolescence, or middle to late adulthood. The clinical continuum encompasses hepatic, cardiac, muscular, and neurologic manifestations that range in severity. The adult-onset form of GSD IV, referred to as adult polyglucosan body disease (APBD), is a neurodegenerative disease characterized by neurogenic bladder, spastic paraparesis, and peripheral neuropathy. There are currently no consensus guidelines for the diagnosis and management of these patients, resulting in high rates of misdiagnosis, delayed diagnosis, and lack of standardized clinical care. To address this, a group of experts from the United States developed a set of recommendations for the diagnosis and management of all clinical phenotypes of GSD IV, including APBD, to support clinicians and caregivers who provide long-term care for individuals with GSD IV. The educational resource includes practical steps to confirm a GSD IV diagnosis and best practices for medical management, including (a) imaging of the liver, heart, skeletal muscle, brain, and spine, (b) functional and neuromusculoskeletal assessments, (c) laboratory investigations, (d) liver and heart transplantation, and (e) long-term follow-up care. Remaining knowledge gaps are detailed to emphasize areas for improvement and future research. Glycogen branching enzyme Glycogen storage disease type IV Andersen disease Adult polyglucosan body disease Clinical practice guideline Management guideline Diagnosis guideline Soler-Alfonso, Claudia verfasserin aut Kiely, Bridget T. verfasserin aut Asai, Akihiro verfasserin aut Smith, Ariana L. verfasserin aut Bali, Deeksha S. verfasserin aut Kang, Peter B. verfasserin aut Landstrom, Andrew P. verfasserin aut Akman, H. Orhan verfasserin aut Burrow, T. Andrew verfasserin aut Orthmann-Murphy, Jennifer L. verfasserin aut Goldman, Deberah S. verfasserin aut Pendyal, Surekha verfasserin aut El-Gharbawy, Areeg H. verfasserin aut Austin, Stephanie L. verfasserin aut Case, Laura E. verfasserin aut Schiffmann, Raphael verfasserin aut Hirano, Michio verfasserin aut Kishnani, Priya S. verfasserin aut Enthalten in Molecular genetics and metabolism Orlando, Fla. : Academic Press, 1998 138 Online-Ressource (DE-627)268125260 (DE-600)1471393-7 (DE-576)106869493 1096-7206 nnns volume:138 GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 42.13 Molekularbiologie VZ 44.33 Physiologische Chemie VZ AR 138 |
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Koch, Rebecca L. @@aut@@ Soler-Alfonso, Claudia @@aut@@ Kiely, Bridget T. @@aut@@ Asai, Akihiro @@aut@@ Smith, Ariana L. @@aut@@ Bali, Deeksha S. @@aut@@ Kang, Peter B. @@aut@@ Landstrom, Andrew P. @@aut@@ Akman, H. Orhan @@aut@@ Burrow, T. Andrew @@aut@@ Orthmann-Murphy, Jennifer L. @@aut@@ Goldman, Deberah S. @@aut@@ Pendyal, Surekha @@aut@@ El-Gharbawy, Areeg H. @@aut@@ Austin, Stephanie L. @@aut@@ Case, Laura E. @@aut@@ Schiffmann, Raphael @@aut@@ Hirano, Michio @@aut@@ Kishnani, Priya S. @@aut@@ |
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Koch, Rebecca L. ddc 610 bkl 42.13 bkl 44.33 misc Glycogen branching enzyme misc Glycogen storage disease type IV misc Andersen disease misc Adult polyglucosan body disease misc Clinical practice guideline misc Management guideline misc Diagnosis guideline Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource |
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610 VZ 42.13 bkl 44.33 bkl Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource Glycogen branching enzyme Glycogen storage disease type IV Andersen disease Adult polyglucosan body disease Clinical practice guideline Management guideline Diagnosis guideline |
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Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource |
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Koch, Rebecca L. Soler-Alfonso, Claudia Kiely, Bridget T. Asai, Akihiro Smith, Ariana L. Bali, Deeksha S. Kang, Peter B. Landstrom, Andrew P. Akman, H. Orhan Burrow, T. Andrew Orthmann-Murphy, Jennifer L. Goldman, Deberah S. Pendyal, Surekha El-Gharbawy, Areeg H. Austin, Stephanie L. Case, Laura E. Schiffmann, Raphael Hirano, Michio Kishnani, Priya S. |
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diagnosis and management of glycogen storage disease type iv, including adult polyglucosan body disease: a clinical practice resource |
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Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource |
| abstract |
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads to accumulation of poorly branched glycogen known as polyglucosan. GSD IV is characterized by a remarkable degree of phenotypic heterogeneity with presentations in utero, during infancy, early childhood, adolescence, or middle to late adulthood. The clinical continuum encompasses hepatic, cardiac, muscular, and neurologic manifestations that range in severity. The adult-onset form of GSD IV, referred to as adult polyglucosan body disease (APBD), is a neurodegenerative disease characterized by neurogenic bladder, spastic paraparesis, and peripheral neuropathy. There are currently no consensus guidelines for the diagnosis and management of these patients, resulting in high rates of misdiagnosis, delayed diagnosis, and lack of standardized clinical care. To address this, a group of experts from the United States developed a set of recommendations for the diagnosis and management of all clinical phenotypes of GSD IV, including APBD, to support clinicians and caregivers who provide long-term care for individuals with GSD IV. The educational resource includes practical steps to confirm a GSD IV diagnosis and best practices for medical management, including (a) imaging of the liver, heart, skeletal muscle, brain, and spine, (b) functional and neuromusculoskeletal assessments, (c) laboratory investigations, (d) liver and heart transplantation, and (e) long-term follow-up care. Remaining knowledge gaps are detailed to emphasize areas for improvement and future research. |
| abstractGer |
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads to accumulation of poorly branched glycogen known as polyglucosan. GSD IV is characterized by a remarkable degree of phenotypic heterogeneity with presentations in utero, during infancy, early childhood, adolescence, or middle to late adulthood. The clinical continuum encompasses hepatic, cardiac, muscular, and neurologic manifestations that range in severity. The adult-onset form of GSD IV, referred to as adult polyglucosan body disease (APBD), is a neurodegenerative disease characterized by neurogenic bladder, spastic paraparesis, and peripheral neuropathy. There are currently no consensus guidelines for the diagnosis and management of these patients, resulting in high rates of misdiagnosis, delayed diagnosis, and lack of standardized clinical care. To address this, a group of experts from the United States developed a set of recommendations for the diagnosis and management of all clinical phenotypes of GSD IV, including APBD, to support clinicians and caregivers who provide long-term care for individuals with GSD IV. The educational resource includes practical steps to confirm a GSD IV diagnosis and best practices for medical management, including (a) imaging of the liver, heart, skeletal muscle, brain, and spine, (b) functional and neuromusculoskeletal assessments, (c) laboratory investigations, (d) liver and heart transplantation, and (e) long-term follow-up care. Remaining knowledge gaps are detailed to emphasize areas for improvement and future research. |
| abstract_unstemmed |
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads to accumulation of poorly branched glycogen known as polyglucosan. GSD IV is characterized by a remarkable degree of phenotypic heterogeneity with presentations in utero, during infancy, early childhood, adolescence, or middle to late adulthood. The clinical continuum encompasses hepatic, cardiac, muscular, and neurologic manifestations that range in severity. The adult-onset form of GSD IV, referred to as adult polyglucosan body disease (APBD), is a neurodegenerative disease characterized by neurogenic bladder, spastic paraparesis, and peripheral neuropathy. There are currently no consensus guidelines for the diagnosis and management of these patients, resulting in high rates of misdiagnosis, delayed diagnosis, and lack of standardized clinical care. To address this, a group of experts from the United States developed a set of recommendations for the diagnosis and management of all clinical phenotypes of GSD IV, including APBD, to support clinicians and caregivers who provide long-term care for individuals with GSD IV. The educational resource includes practical steps to confirm a GSD IV diagnosis and best practices for medical management, including (a) imaging of the liver, heart, skeletal muscle, brain, and spine, (b) functional and neuromusculoskeletal assessments, (c) laboratory investigations, (d) liver and heart transplantation, and (e) long-term follow-up care. Remaining knowledge gaps are detailed to emphasize areas for improvement and future research. |
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| title_short |
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource |
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Soler-Alfonso, Claudia Kiely, Bridget T. Asai, Akihiro Smith, Ariana L. Bali, Deeksha S. Kang, Peter B. Landstrom, Andrew P. Akman, H. Orhan Burrow, T. Andrew Orthmann-Murphy, Jennifer L. Goldman, Deberah S. Pendyal, Surekha El-Gharbawy, Areeg H. Austin, Stephanie L. Case, Laura E. Schiffmann, Raphael Hirano, Michio Kishnani, Priya S. |
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Soler-Alfonso, Claudia Kiely, Bridget T. Asai, Akihiro Smith, Ariana L. Bali, Deeksha S. Kang, Peter B. Landstrom, Andrew P. Akman, H. Orhan Burrow, T. Andrew Orthmann-Murphy, Jennifer L. Goldman, Deberah S. Pendyal, Surekha El-Gharbawy, Areeg H. Austin, Stephanie L. Case, Laura E. Schiffmann, Raphael Hirano, Michio Kishnani, Priya S. |
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| doi_str |
10.1016/j.ymgme.2023.107525 |
| up_date |
2024-07-06T18:40:10.406Z |
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