Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases
Creatine transporter deficiency (CTD) is an X-linked inborn error of creatine metabolism characterized by reduced intra-cerebral creatine, developmental delay/intellectual disability, (ID), behavioral disturbance, seizures, and hypotonia in individuals harboring mutations in the SLC6A8 gene. Treatme...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Dunbar, Mary [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2014 |
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| Umfang: |
16 |
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| Übergeordnetes Werk: |
Enthalten in: Measles transmission during a large outbreak in California - Worden, Lee ELSEVIER, 2019, Orlando, Fla |
|---|---|
| Übergeordnetes Werk: |
volume:112 ; year:2014 ; number:4 ; pages:259-274 ; extent:16 |
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| DOI / URN: |
10.1016/j.ymgme.2014.05.011 |
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| 520 | |a Creatine transporter deficiency (CTD) is an X-linked inborn error of creatine metabolism characterized by reduced intra-cerebral creatine, developmental delay/intellectual disability, (ID), behavioral disturbance, seizures, and hypotonia in individuals harboring mutations in the SLC6A8 gene. Treatment for CTD includes supplementation with creatine, either alone or in combination with creatine precursors (arginine or glycine). Unlike other disorders of creatine metabolism, the efficacy of its treatment remains controversial. | ||
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10.1016/j.ymgme.2014.05.011 doi GBVA2014018000023.pica (DE-627)ELV022980717 (ELSEVIER)S1096-7192(14)00173-5 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 44.75 bkl Dunbar, Mary verfasserin aut Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases 2014 16 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Creatine transporter deficiency (CTD) is an X-linked inborn error of creatine metabolism characterized by reduced intra-cerebral creatine, developmental delay/intellectual disability, (ID), behavioral disturbance, seizures, and hypotonia in individuals harboring mutations in the SLC6A8 gene. Treatment for CTD includes supplementation with creatine, either alone or in combination with creatine precursors (arginine or glycine). Unlike other disorders of creatine metabolism, the efficacy of its treatment remains controversial. Jaggumantri, Sravan oth Sargent, Michael oth Stockler-Ipsiroglu, Sylvia oth van Karnebeek, Clara D.M. oth Enthalten in Academic Press Worden, Lee ELSEVIER Measles transmission during a large outbreak in California 2019 Orlando, Fla (DE-627)ELV003843262 volume:112 year:2014 number:4 pages:259-274 extent:16 https://doi.org/10.1016/j.ymgme.2014.05.011 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.75 Infektionskrankheiten parasitäre Krankheiten Medizin VZ AR 112 2014 4 259-274 16 045F 610 |
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10.1016/j.ymgme.2014.05.011 doi GBVA2014018000023.pica (DE-627)ELV022980717 (ELSEVIER)S1096-7192(14)00173-5 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 44.75 bkl Dunbar, Mary verfasserin aut Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases 2014 16 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Creatine transporter deficiency (CTD) is an X-linked inborn error of creatine metabolism characterized by reduced intra-cerebral creatine, developmental delay/intellectual disability, (ID), behavioral disturbance, seizures, and hypotonia in individuals harboring mutations in the SLC6A8 gene. Treatment for CTD includes supplementation with creatine, either alone or in combination with creatine precursors (arginine or glycine). Unlike other disorders of creatine metabolism, the efficacy of its treatment remains controversial. Jaggumantri, Sravan oth Sargent, Michael oth Stockler-Ipsiroglu, Sylvia oth van Karnebeek, Clara D.M. oth Enthalten in Academic Press Worden, Lee ELSEVIER Measles transmission during a large outbreak in California 2019 Orlando, Fla (DE-627)ELV003843262 volume:112 year:2014 number:4 pages:259-274 extent:16 https://doi.org/10.1016/j.ymgme.2014.05.011 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.75 Infektionskrankheiten parasitäre Krankheiten Medizin VZ AR 112 2014 4 259-274 16 045F 610 |
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Creatine transporter deficiency (CTD) is an X-linked inborn error of creatine metabolism characterized by reduced intra-cerebral creatine, developmental delay/intellectual disability, (ID), behavioral disturbance, seizures, and hypotonia in individuals harboring mutations in the SLC6A8 gene. Treatment for CTD includes supplementation with creatine, either alone or in combination with creatine precursors (arginine or glycine). Unlike other disorders of creatine metabolism, the efficacy of its treatment remains controversial. |
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Creatine transporter deficiency (CTD) is an X-linked inborn error of creatine metabolism characterized by reduced intra-cerebral creatine, developmental delay/intellectual disability, (ID), behavioral disturbance, seizures, and hypotonia in individuals harboring mutations in the SLC6A8 gene. Treatment for CTD includes supplementation with creatine, either alone or in combination with creatine precursors (arginine or glycine). Unlike other disorders of creatine metabolism, the efficacy of its treatment remains controversial. |
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Creatine transporter deficiency (CTD) is an X-linked inborn error of creatine metabolism characterized by reduced intra-cerebral creatine, developmental delay/intellectual disability, (ID), behavioral disturbance, seizures, and hypotonia in individuals harboring mutations in the SLC6A8 gene. Treatment for CTD includes supplementation with creatine, either alone or in combination with creatine precursors (arginine or glycine). Unlike other disorders of creatine metabolism, the efficacy of its treatment remains controversial. |
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