Titlebook: JIMD Reports, Volume 20; Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men

Albumin

Characterization of Variegate Porphyria Mutations Using a Minigene Approach,te porphyria at the CIPYP (Centro de Investigaciones sobre Porfirinas y Porfirias). Sequencing of the protoporphyrinogen oxidase gene, the gene altered in this type of porphyria, revealed three previously undescribed mutations: c.338+3insT, c.807G>A, and c.808-1G>C. As these mutations do not affect

种植,培养

Homozygous Truncating Intragenic Duplication in , Responsible for Rare Autosomal Recessive Nonsyndrseveral modes of inheritance. Nonsyndromic autosomal recessive ID (NS-ARID) appears extremely heterogeneous with numerous genes identified to date, including inborn errors of metabolism. The . gene encodes a subunit of the endoplasmic reticulum (ER)-bound oligosaccharyltransferase complex, which med

Harness

,Tandem Duplication of Exons 1–7 Neither Impairs , Expression Nor Causes a Menkes Disease Phenotype, exons 1–7 discovered in the context of a challenging prenatal diagnostic situation. All other reported . duplications (. = 24) involved intragenic tandem duplications, predicted to disrupt the normal translational reading frame and produce nonfunctional ATP7A proteins. In contrast, the exon 1–7 dup

GULF

Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in rtality, morbidity, and shortcomings of ERT in a larger cohort of patients treated outside clinical trials. To accomplish this, we retrospectively analyzed the data of all 23 subjects with classical infantile Pompe disease having started ERT in Germany between January 2003 and December 2010...: Ten

Evolve

Long-Term Functional Outcomes of Children with Hurler Syndrome Treated with Unrelated Umbilical Cor long-term outcomes of patients with Hurler syndrome who underwent umbilical cord blood transplantation from unrelated donors...: Only patients with Hurler syndrome who underwent umbilical cord blood transplantation between December 1995 and March 2006 (. = 25) and who were followed for at least 5 y

Constrain

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泥瓦匠

SPECT

mastopexy