Titlebook: JIMD Reports, Volume 26; Eva Morava,Matthias Baumgartner,Verena Peters Book 2016 SSIEM and Springer-Verlag Berlin Heidelberg 2016 inherite

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https://doi.org/10.1007/978-3-662-49833-0inherited metabolic diseases; pediatrics; medical genetics; Mendelian disorder; endocrinology; metabolic

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JIMD Reports, Volume 26978-3-662-49833-0Series ISSN 2192-8304 Series E-ISSN 2192-8312

Type-1-Diabetes

Friedreich Ataxia in Classical Galactosaemia,stence of classical galactosaemia and Friedreich ataxia (FRDA) in nine children from seven Irish Traveller families. These two autosomal recessive disorders, the loci for which are located on either side of the centromere of chromosome 9, appear to be in linkage disequilibrium in this subgroup. Both

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Phenotypic Expansion of Congenital Disorder of Glycosylation Due to , Null Mutation,disability, seizures with hypsarrhythmia (West syndrome), hepatosplenomegaly, increased serum transaminases, iris coloboma, glaucoma, corneal clouding and bilateral dilated lateral ventricles, and extra-axial post-cerebellar space. Serum transferrin isoelectrofocusing (IEF) showed a type 1 pattern.

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TMEM165 Deficiency: Postnatal Changes in Glycosylation,anism, a mutation in a single gene leads to a multisystemic disorder. We describe a patient with TMEM165-CDG with facial dysmorphism, nephrotic syndrome, cardiac defects, enlarged cerebral ventricles, feeding problems, and neurological involvement. Having confirmed the diagnosis via prenatal diagnos

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Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum,smorphic features. We report a case presenting prenatally with hyperechogenic bowel and intrauterine growth restriction. The infant was born small for gestational age, with cutis laxa and hypertrichosis. Postnatally, meconium plug was identified, complicated with intestinal obstruction necessitating

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Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (A central nervous system. It is characterized principally by a transfusion-dependent anemia that usually improves over time, a tendency to develop severe infections, and a high mortality rate. We describe a group of 11 PS patients diagnosed in Italy in the period 1993–2014. The analysis of this reaso

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Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progrese to body mass provides an indication of the extent of muscle tissue destruction, i.e., the progression and severity of the disease..In this study we use Pompe disease as an example to report the new possibility of using bioimpedance analysis (BIA) to assess the relative proportion of fatty and musc