Titlebook: JIMD Reports - Case and Research Reports, 2012/4; Garry Brown,Eva Morava,Johannes Zschocke Book 2013 SSIEM and Springer-Verlag Berlin Heid

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Garry Brown,Eva Morava,Johannes ZschockeUnique collection of case and research reports on rare metabolic disorders.Contains unusual or previously unrecorded features relevant to metabolic disorders.All contributions rigorously peer-reviewed

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2192-8304 tabolic disorders.All contributions rigorously peer-reviewedJIMD 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 clinica

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Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency,fatty acid oxidation disorder. Liver histology showed diffuse, predominately macrovesicular steatosis, hepatocellular and canalicular cholestasis but no bile duct paucity or evidence of large duct obstruction. The liver dysfunction resolved in 4–7 weeks.

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2192-8304 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.978-3-642-32441-3978-3-642-32442-0Series ISSN 2192-8304 Series E-ISSN 2192-8312

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Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embrngle cell embryo biopsy and PGD for the detection of two different mutations in the (PAH) gene. This case highlights both an important scientific development as well as the ethical challenge in offering couples who carry PKU this new reproductive option when starting their family.