[JIMD Reports] JIMD Reports - Case and Research Reports, 2012/4 Volume 7 || Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency

[JIMD Reports] JIMD Reports - Case and R

[JIMD Reports] JIMD Reports - Case and Research Reports, 2012/4 Volume 7 || Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency

✍ Brown, Garry; Morava, Eva; Peters, Verena; Gibson, K Michael; Zschocke, Johannes 📂 Article 📅 2012 🏛 Springer Berlin Heidelberg 🌐 German ⚖ 120 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, 2012/4 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, 2012/4 Volume 7 || Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency

✦ Synopsis