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Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.
Steenhof, Maria; Kibæk, Maria; Larsen, Martin J; Christensen, Mette; Lund, Allan Meldgaard; Brusgaard, Klaus; Hertz, Jens Michael.
Afiliación
  • Steenhof M; Department of Clinical Genetics, Odense University Hospital, J. B. Winsløws Vej 4, 5000, Odense C, Denmark. maria.steenhof@rsyd.dk.
  • Kibæk M; Department of Clinical Research, University of Southern Denmark, Odense, Denmark. maria.steenhof@rsyd.dk.
  • Larsen MJ; H. C. Andersen Children's Hospital, Odense, Denmark.
  • Christensen M; Department of Clinical Genetics, Odense University Hospital, J. B. Winsløws Vej 4, 5000, Odense C, Denmark.
  • Lund AM; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
  • Brusgaard K; Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.
  • Hertz JM; Centre for Inherited Metabolic Diseases, Departments of Paediatrics and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Neurogenetics ; 19(3): 145-149, 2018 08.
Article en En | MEDLINE | ID: mdl-29754261
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Aldehído Deshidrogenasa / Aminoácidos / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Dinamarca
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Aldehído Deshidrogenasa / Aminoácidos / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Dinamarca