The National Niemann-Pick C1 disease database: Report of clinical features and health problems

Niemann–Pick type C1 (NPC1) disease is an autosomal recessive disorder characterized clinically by neonatal jaundice, hepatosplenomegaly, vertical gaze palsy, ataxia, dystonia, and progressive neurodegeneration. The present study provides basic clinical and health information from the National Niema...

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Veröffentlicht in:	American journal of medical genetics. Part A 2007-06, Vol.143A (11), p.1204-1211
Hauptverfasser:	Garver, William S., Francis, Gordon A., Jelinek, David, Shepherd, Glen, Flynn, James, Castro, Graciela, Walsh Vockley, Cate, Coppock, Donald L., Pettit, Kathleen M., Heidenreich, Randy A., Meaney, F. John
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age Distribution Biological and medical sciences Child Child, Preschool cholesterol Databases, Factual Death Errors of metabolism genotype Humans Infant Infant, Newborn Lipids (lysosomal enzyme disorders, storage diseases) Medical genetics Medical sciences Metabolic diseases Middle Aged Niemann-Pick Disease, Type C - diagnosis Niemann-Pick Disease, Type C - pathology Niemann-Pick type C1 disease phenotype Surveys and Questionnaires
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