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Journal of Inherited Metabolic Disease|November 1, 2002
Phenylketonuria in adulthood: a collaborative studyR Koch, B Burton, G Hoganson, et al.Journal of Inherited Metabolic Disease|November 1, 2002
Elevated plasma phenylalanine concentrations may adversely affect bone status of phenylketonuric miceS Yannicelli, D M MedeirosJournal of Inherited Metabolic Disease|November 1, 2002
Pamidronate treatment improves bone mineral density in children with Menkes diseaseS Kanumakala, A Boneh, M ZacharinJournal of Inherited Metabolic Disease|November 1, 2002
A novel FUCA1 mutation causing fucosidosis in a Chinese boyP Ip, W Goh, K W Chan, et al.Journal of Inherited Metabolic Disease|May 10, 2002
Plasma lysine concentration and availability of 2-ketoglutarate in liver mitochondriaP Kamoun, V Richard, D Rabier, et al.Journal of Inherited Metabolic Disease|May 10, 2002
D-2-Hydroxyglutaric aciduria in a patient with a severe clinical phenotype and unusual MRI findingsM Wajne, C R Vargas, C Funayama, et al.Journal of Inherited Metabolic Disease|May 10, 2002
Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher diseaseR Gornati, B Berra, G Montorfano, et al.Journal of Inherited Metabolic Disease|May 10, 2002
Lipid status and long-chain polyunsaturated fatty acid concentrations in adults and adolescents with phenylketonuria on phenylalanine-restricted dietK Moseley, R Koch, A B MoserJournal of Inherited Metabolic Disease|January 31, 2003
Glutaric aciduria type III: a distinctive non-disease?I Knerr, J Zschocke, U Trautmann, et al.Journal of Inherited Metabolic Disease|January 24, 2002
Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findingsM T Dotti, A Rufa, A FedericoPageof 429