Titlebook: JIMD Reports - Case and Research Reports, 2012/3; SSIEM Book 2012 SSIEM and Springer-Verlag Berlin Heidelberg 2012 endocrinology.inherited

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E Martins,A Marcão,A Bandeira,H Fonseca,C Nogueira,L Vilarinhoof the information loss problem and the firewall paradox.Pro.This thesis focuses on the recent firewall controversy surrounding evaporating black holes, and shows that in the best understood example concerning electrically charged black holes with a flat event horizon in anti-de Sitter (AdS) spaceti

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Platelet Hexosaminidase A Enzyme Assay Effectively Detects Carriers Missed by Targeted DNA Mutationse (TSD) carriers, irrespective of ethnic background. This is increasingly important, as the gene pool of those who identify as Ashkenazi Jewish is diversifying. Here we describe the analysis of a cohort of 4,325 individuals arising from large carrier screening programs and tested by the serum and/o

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A Novel Mutation in , Resulting in Hepatic CPT Deficiency,od, the patient developed a life-threatening episode (hypoketotic hypoglycemia, liver cytolysis, and hepatomegaly) evocative of a mitochondrial fatty acid oxidation disorder, and presented deficient fibroblast carnitine palmitoyltransferase 1 (CPT1) activity and homozygosity for the c.1783 C > T nuc

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Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome,anine (phe) acts as a teratogen to the developing fetus with consequences including intellectual disability, microcephaly, facial dysmorphism, growth retardation, and congenital heart disease. MPKU can be prevented if metabolic control is achieved by 8–10 weeks gestation. If control is not achieved,