[JIMD Reports] JIMD Reports - Case and Research Reports, 2012/3 Volume 6 || A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency

[JIMD Reports] JIMD Reports - Case and R

[JIMD Reports] JIMD Reports - Case and Research Reports, 2012/6 Volume 9 || Leptin Levels in Children and Adults with Classic Galactosaemia

✍ Zschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena 📂 Article 📅 2012 🏛 Springer Berlin Heidelberg ⚖ 372 KB

[JIMD Reports] JIMD Reports - Case and R

[JIMD Reports] JIMD Reports - Case and Research Reports, 2012/6 Volume 9 || Effects of Switching from Agalsidase Beta to Agalsidase Alfa in 10 Patients with Anderson-Fabry Disease

✍ Zschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena 📂 Article 📅 2012 🏛 Springer Berlin Heidelberg ⚖ 163 KB

[JIMD Reports] JIMD Reports - Case and R

[JIMD Reports] JIMD Reports - Case and Research Reports, Volume 13 Volume 13 || Liver Engraftment and Repopulation by In Vitro Expanded Adult Derived Human Liver Stem Cells in a Child with Ornithine Carbamoyltransferase Deficiency

✍ Zschocke, Johannes; Gibson, K. Michael; Brown, Garry; Morava, Eva; Peters, Veren 📂 Article 📅 2013 🏛 Springer Berlin Heidelberg ⚖ 339 KB

[JIMD Reports] JIMD Reports - Case and R

[JIMD Reports] JIMD Reports - Case and Research Reports, 2012/4 Volume 7 || Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer

✍ Brown, Garry; Morava, Eva; Peters, Verena; Gibson, K Michael; Zschocke, Johannes 📂 Article 📅 2012 🏛 Springer Berlin Heidelberg 🌐 German ⚖ 270 KB

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

[JIMD Reports] JIMD Reports - Case and R

[JIMD Reports] JIMD Reports - Case and Research Reports, 2012/1 Volume 4 || Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis

✍ Usta, Julnar 📂 Article 📅 2011 🏛 Springer Berlin Heidelberg 🌐 German ⚖ 165 KB

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

[JIMD Reports] JIMD Reports - Case and Research Reports, 2012/3 Volume 6 || A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency

✦ Synopsis