Titlebook: JIMD Reports, Volume 19; Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men

斗志

制度

LIKEN

xanthelasma

A De Novo Variant in Galactose-1-P Uridylyltransferase (,) Leading to Classic Galactosemia, both parents confirmed the expected degrees of relationship in the trio as well as inheritance of a common c.563A>G (p.Q188R) . mutation from the mother. This result demonstrates that not all pathogenic . mutations are inherited and raises concern that . may have a higher new mutation rate than previously believed.

neutrophils

燈絲

Pathologic Variants of the Mitochondrial Phosphate Carrier ,: Two New Patients and Expansion of theinsCAGATAC (p.Gly296_Ser300delinsGlnIlePro). Protein structure analysis indicated that both variants are likely to be pathogenic. Sequencing of . should be considered in patients with isolated cardiomyopathy, even those without generalized skeletal myopathy or lactic acidosis.

CANDY

Leigh Syndrome Caused by the ,-, m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Demia due to renal sodium loss and inappropriate ADH secretion and hypertension can be features of this entity in addition to the previously reported cardiomyopathy and WPW-like conduction pattern and that they present additional challenges in diagnosis and management.

煩憂

,A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developm of urine, plasma, and cerebrospinal fluid (CSF) using reversed-phase HPLC, combined with electrospray tandem mass spectrometry. We report a first Korean female case with β-ureidopropionase deficiency.

right-atrium

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