Morquio B disease: From pathophysiology towards diagnosis
Morquio B disease is an attenuated phenotype within the spectrum of beta galactosidase (GLB1) deficiencies. It is characterised by dysostosis multiplex, ligament laxity, mildly coarse facies and heart valve defects due to keratan sulphate accumulation, predominantly in the cartilage. Morquio B patie...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Caciotti, Anna [verfasserIn] Cellai, Lucrezia [verfasserIn] Tonin, Rodolfo [verfasserIn] Mei, Davide [verfasserIn] Procopio, Elena [verfasserIn] Di Rocco, Maja [verfasserIn] Andaloro, Antonio [verfasserIn] Antuzzi, Daniela [verfasserIn] Rampazzo, Angelica [verfasserIn] Rigoldi, Miriam [verfasserIn] Forni, Giulia [verfasserIn] la Marca, Giancarlo [verfasserIn] Guerrini, Renzo [verfasserIn] Morrone, Amelia [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2021 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Molecular genetics and metabolism - Orlando, Fla. : Academic Press, 1998, 132, Seite 180-188 |
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| Übergeordnetes Werk: |
volume:132 ; pages:180-188 |
| DOI / URN: |
10.1016/j.ymgme.2021.01.008 |
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| 520 | |a Morquio B disease is an attenuated phenotype within the spectrum of beta galactosidase (GLB1) deficiencies. It is characterised by dysostosis multiplex, ligament laxity, mildly coarse facies and heart valve defects due to keratan sulphate accumulation, predominantly in the cartilage. Morquio B patients have normal neurological development, setting them apart from those with the more severe GM1 gangliosidosis. | ||
| 650 | 4 | |a Morquio | |
| 650 | 4 | |a Beta galactosidase | |
| 650 | 4 | |a Keratan sulphate | |
| 650 | 4 | |a Mucopolysaccharidosis | |
| 650 | 4 | |a EBP | |
| 650 | 4 | |a GLB1 | |
| 700 | 1 | |a Cellai, Lucrezia |e verfasserin |4 aut | |
| 700 | 1 | |a Tonin, Rodolfo |e verfasserin |4 aut | |
| 700 | 1 | |a Mei, Davide |e verfasserin |4 aut | |
| 700 | 1 | |a Procopio, Elena |e verfasserin |4 aut | |
| 700 | 1 | |a Di Rocco, Maja |e verfasserin |4 aut | |
| 700 | 1 | |a Andaloro, Antonio |e verfasserin |4 aut | |
| 700 | 1 | |a Antuzzi, Daniela |e verfasserin |4 aut | |
| 700 | 1 | |a Rampazzo, Angelica |e verfasserin |4 aut | |
| 700 | 1 | |a Rigoldi, Miriam |e verfasserin |4 aut | |
| 700 | 1 | |a Forni, Giulia |e verfasserin |4 aut | |
| 700 | 1 | |a la Marca, Giancarlo |e verfasserin |4 aut | |
| 700 | 1 | |a Guerrini, Renzo |e verfasserin |4 aut | |
| 700 | 1 | |a Morrone, Amelia |e verfasserin |4 aut | |
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10.1016/j.ymgme.2021.01.008 doi (DE-627)ELV005675170 (ELSEVIER)S1096-7192(21)00009-3 DE-627 ger DE-627 rda eng 610 DE-600 42.13 bkl 44.33 bkl Caciotti, Anna verfasserin aut Morquio B disease: From pathophysiology towards diagnosis 2021 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Morquio B disease is an attenuated phenotype within the spectrum of beta galactosidase (GLB1) deficiencies. It is characterised by dysostosis multiplex, ligament laxity, mildly coarse facies and heart valve defects due to keratan sulphate accumulation, predominantly in the cartilage. Morquio B patients have normal neurological development, setting them apart from those with the more severe GM1 gangliosidosis. Morquio Beta galactosidase Keratan sulphate Mucopolysaccharidosis EBP GLB1 Cellai, Lucrezia verfasserin aut Tonin, Rodolfo verfasserin aut Mei, Davide verfasserin aut Procopio, Elena verfasserin aut Di Rocco, Maja verfasserin aut Andaloro, Antonio verfasserin aut Antuzzi, Daniela verfasserin aut Rampazzo, Angelica verfasserin aut Rigoldi, Miriam verfasserin aut Forni, Giulia verfasserin aut la Marca, Giancarlo verfasserin aut Guerrini, Renzo verfasserin aut Morrone, Amelia verfasserin aut Enthalten in Molecular genetics and metabolism Orlando, Fla. : Academic Press, 1998 132, Seite 180-188 Online-Ressource (DE-627)268125260 (DE-600)1471393-7 (DE-576)106869493 1096-7206 nnns volume:132 pages:180-188 GBV_USEFLAG_U SYSFLAG_U GBV_ELV 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_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 42.13 Molekularbiologie 44.33 Physiologische Chemie AR 132 180-188 |
| spelling |
10.1016/j.ymgme.2021.01.008 doi (DE-627)ELV005675170 (ELSEVIER)S1096-7192(21)00009-3 DE-627 ger DE-627 rda eng 610 DE-600 42.13 bkl 44.33 bkl Caciotti, Anna verfasserin aut Morquio B disease: From pathophysiology towards diagnosis 2021 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Morquio B disease is an attenuated phenotype within the spectrum of beta galactosidase (GLB1) deficiencies. It is characterised by dysostosis multiplex, ligament laxity, mildly coarse facies and heart valve defects due to keratan sulphate accumulation, predominantly in the cartilage. Morquio B patients have normal neurological development, setting them apart from those with the more severe GM1 gangliosidosis. Morquio Beta galactosidase Keratan sulphate Mucopolysaccharidosis EBP GLB1 Cellai, Lucrezia verfasserin aut Tonin, Rodolfo verfasserin aut Mei, Davide verfasserin aut Procopio, Elena verfasserin aut Di Rocco, Maja verfasserin aut Andaloro, Antonio verfasserin aut Antuzzi, Daniela verfasserin aut Rampazzo, Angelica verfasserin aut Rigoldi, Miriam verfasserin aut Forni, Giulia verfasserin aut la Marca, Giancarlo verfasserin aut Guerrini, Renzo verfasserin aut Morrone, Amelia verfasserin aut Enthalten in Molecular genetics and metabolism Orlando, Fla. : Academic Press, 1998 132, Seite 180-188 Online-Ressource (DE-627)268125260 (DE-600)1471393-7 (DE-576)106869493 1096-7206 nnns volume:132 pages:180-188 GBV_USEFLAG_U SYSFLAG_U GBV_ELV 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_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 42.13 Molekularbiologie 44.33 Physiologische Chemie AR 132 180-188 |
| allfields_unstemmed |
10.1016/j.ymgme.2021.01.008 doi (DE-627)ELV005675170 (ELSEVIER)S1096-7192(21)00009-3 DE-627 ger DE-627 rda eng 610 DE-600 42.13 bkl 44.33 bkl Caciotti, Anna verfasserin aut Morquio B disease: From pathophysiology towards diagnosis 2021 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Morquio B disease is an attenuated phenotype within the spectrum of beta galactosidase (GLB1) deficiencies. It is characterised by dysostosis multiplex, ligament laxity, mildly coarse facies and heart valve defects due to keratan sulphate accumulation, predominantly in the cartilage. Morquio B patients have normal neurological development, setting them apart from those with the more severe GM1 gangliosidosis. Morquio Beta galactosidase Keratan sulphate Mucopolysaccharidosis EBP GLB1 Cellai, Lucrezia verfasserin aut Tonin, Rodolfo verfasserin aut Mei, Davide verfasserin aut Procopio, Elena verfasserin aut Di Rocco, Maja verfasserin aut Andaloro, Antonio verfasserin aut Antuzzi, Daniela verfasserin aut Rampazzo, Angelica verfasserin aut Rigoldi, Miriam verfasserin aut Forni, Giulia verfasserin aut la Marca, Giancarlo verfasserin aut Guerrini, Renzo verfasserin aut Morrone, Amelia verfasserin aut Enthalten in Molecular genetics and metabolism Orlando, Fla. : Academic Press, 1998 132, Seite 180-188 Online-Ressource (DE-627)268125260 (DE-600)1471393-7 (DE-576)106869493 1096-7206 nnns volume:132 pages:180-188 GBV_USEFLAG_U SYSFLAG_U GBV_ELV 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_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 42.13 Molekularbiologie 44.33 Physiologische Chemie AR 132 180-188 |
| allfieldsGer |
10.1016/j.ymgme.2021.01.008 doi (DE-627)ELV005675170 (ELSEVIER)S1096-7192(21)00009-3 DE-627 ger DE-627 rda eng 610 DE-600 42.13 bkl 44.33 bkl Caciotti, Anna verfasserin aut Morquio B disease: From pathophysiology towards diagnosis 2021 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Morquio B disease is an attenuated phenotype within the spectrum of beta galactosidase (GLB1) deficiencies. It is characterised by dysostosis multiplex, ligament laxity, mildly coarse facies and heart valve defects due to keratan sulphate accumulation, predominantly in the cartilage. Morquio B patients have normal neurological development, setting them apart from those with the more severe GM1 gangliosidosis. Morquio Beta galactosidase Keratan sulphate Mucopolysaccharidosis EBP GLB1 Cellai, Lucrezia verfasserin aut Tonin, Rodolfo verfasserin aut Mei, Davide verfasserin aut Procopio, Elena verfasserin aut Di Rocco, Maja verfasserin aut Andaloro, Antonio verfasserin aut Antuzzi, Daniela verfasserin aut Rampazzo, Angelica verfasserin aut Rigoldi, Miriam verfasserin aut Forni, Giulia verfasserin aut la Marca, Giancarlo verfasserin aut Guerrini, Renzo verfasserin aut Morrone, Amelia verfasserin aut Enthalten in Molecular genetics and metabolism Orlando, Fla. : Academic Press, 1998 132, Seite 180-188 Online-Ressource (DE-627)268125260 (DE-600)1471393-7 (DE-576)106869493 1096-7206 nnns volume:132 pages:180-188 GBV_USEFLAG_U SYSFLAG_U GBV_ELV 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_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 42.13 Molekularbiologie 44.33 Physiologische Chemie AR 132 180-188 |
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10.1016/j.ymgme.2021.01.008 doi (DE-627)ELV005675170 (ELSEVIER)S1096-7192(21)00009-3 DE-627 ger DE-627 rda eng 610 DE-600 42.13 bkl 44.33 bkl Caciotti, Anna verfasserin aut Morquio B disease: From pathophysiology towards diagnosis 2021 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Morquio B disease is an attenuated phenotype within the spectrum of beta galactosidase (GLB1) deficiencies. It is characterised by dysostosis multiplex, ligament laxity, mildly coarse facies and heart valve defects due to keratan sulphate accumulation, predominantly in the cartilage. Morquio B patients have normal neurological development, setting them apart from those with the more severe GM1 gangliosidosis. Morquio Beta galactosidase Keratan sulphate Mucopolysaccharidosis EBP GLB1 Cellai, Lucrezia verfasserin aut Tonin, Rodolfo verfasserin aut Mei, Davide verfasserin aut Procopio, Elena verfasserin aut Di Rocco, Maja verfasserin aut Andaloro, Antonio verfasserin aut Antuzzi, Daniela verfasserin aut Rampazzo, Angelica verfasserin aut Rigoldi, Miriam verfasserin aut Forni, Giulia verfasserin aut la Marca, Giancarlo verfasserin aut Guerrini, Renzo verfasserin aut Morrone, Amelia verfasserin aut Enthalten in Molecular genetics and metabolism Orlando, Fla. : Academic Press, 1998 132, Seite 180-188 Online-Ressource (DE-627)268125260 (DE-600)1471393-7 (DE-576)106869493 1096-7206 nnns volume:132 pages:180-188 GBV_USEFLAG_U SYSFLAG_U GBV_ELV 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_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 42.13 Molekularbiologie 44.33 Physiologische Chemie AR 132 180-188 |
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610 DE-600 42.13 bkl 44.33 bkl Morquio B disease: From pathophysiology towards diagnosis Morquio Beta galactosidase Keratan sulphate Mucopolysaccharidosis EBP GLB1 |
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Morquio B disease: From pathophysiology towards diagnosis |
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Morquio B disease: From pathophysiology towards diagnosis |
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Caciotti, Anna Cellai, Lucrezia Tonin, Rodolfo Mei, Davide Procopio, Elena Di Rocco, Maja Andaloro, Antonio Antuzzi, Daniela Rampazzo, Angelica Rigoldi, Miriam Forni, Giulia la Marca, Giancarlo Guerrini, Renzo Morrone, Amelia |
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morquio b disease: from pathophysiology towards diagnosis |
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Morquio B disease: From pathophysiology towards diagnosis |
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Morquio B disease is an attenuated phenotype within the spectrum of beta galactosidase (GLB1) deficiencies. It is characterised by dysostosis multiplex, ligament laxity, mildly coarse facies and heart valve defects due to keratan sulphate accumulation, predominantly in the cartilage. Morquio B patients have normal neurological development, setting them apart from those with the more severe GM1 gangliosidosis. |
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Morquio B disease is an attenuated phenotype within the spectrum of beta galactosidase (GLB1) deficiencies. It is characterised by dysostosis multiplex, ligament laxity, mildly coarse facies and heart valve defects due to keratan sulphate accumulation, predominantly in the cartilage. Morquio B patients have normal neurological development, setting them apart from those with the more severe GM1 gangliosidosis. |
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Morquio B disease is an attenuated phenotype within the spectrum of beta galactosidase (GLB1) deficiencies. It is characterised by dysostosis multiplex, ligament laxity, mildly coarse facies and heart valve defects due to keratan sulphate accumulation, predominantly in the cartilage. Morquio B patients have normal neurological development, setting them apart from those with the more severe GM1 gangliosidosis. |
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