[JIMD Reports] JIMD Reports - Volume 10 Volume 10 || An Exceptional Family with Three Consecutive Generations Affected by Wilson Disease
- 作者Zschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena
- 文件大小140.98KB
- 发表时间2013
- DOI10.1007/8904_2012_206
- 页码79-82
[JIMD Reports] JIMD Reports - Volume 10 Volume 10 || Chitotriosidase Deficiency: A Mutation Update in an African PopulationZschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena · 2013
[JIMD Reports] JIMD Reports - Volume 10 Volume 10 || Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine DeficiencyZschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena · 2013
[JIMD Reports] JIMD Reports - Volume 10 Volume 10 || Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case ReportZschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena · 2013
[JIMD Reports] JIMD Reports - Volume 10 Volume 10 || Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab EmiratesZschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena · 2013
[JIMD Reports] JIMD Reports - Volume 10 Volume 10 || Sight-Threatening Phenylketonuric Encephalopathy in a Young Adult, Reversed by DietZschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena · 2013
[JIMD Reports] JIMD Reports - Volume 10 Volume 10 || Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C DiseaseZschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena · 2013
[JIMD Reports] JIMD Reports - Volume 10 Volume 10 || The Management of Pregnancy in Maple Syrup Urine Disease: Experience with Two PatientsZschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena · 2013
[JIMD Reports] JIMD Reports - Case and Research Reports, 2012/4 Volume 7 ||Brown, Garry; Morava, Eva; Peters, Verena; Gibson, K Michael; Zschocke, Johannes · 2013
[JIMD Reports] JIMD Reports - Volume 11 Volume 11 || Motor and Speech Disorders in Classic GalactosemiaZschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena · 2013
[JIMD Reports] JIMD Reports - Volume 12 Volume 12 || Pulmonary Manifestations in a Patient with Transaldolase DeficiencyZschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena · 2014
[JIMD Reports] JIMD Reports - Volume 11 Volume 11 || Socio-emotional Problems in Children with CDGZschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena · 2013
[JIMD Reports] JIMD Reports - Volume 12 Volume 12 || A Japanese Adult Case of Guanidinoacetate Methyltransferase DeficiencyZschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena · 2014
[JIMD Reports] JIMD Reports - Volume 11 Volume 11 || Liver Transplantation Prevents Progressive Neurological Impairment in ArgininemiaZschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena · 2013
[JIMD Reports] JIMD Reports - Volume 12 Volume 12 || Chiari 1 Malformation and Holocord Syringomyelia in Hunter SyndromeZschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena · 2014
[JIMD Reports] JIMD Reports - Volume 10 Volume 10 || Chitotriosidase Deficiency: A Mutation Update in an African PopulationZschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena · 2013