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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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Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Typ in 82 patients (88%) with GSD Ia and 10 patients (77%) with GSD Ib. The success rate for extending fasting was 95% for females and 78% for males. Of the patients who entered the longitudinal phase, long-term data are available for 44 subjects. Mean duration of fasting on traditional cornstarch prio
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Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review,dase deficiency and electively treating with pyridoxal-5′-phosphate is considered in any neonate with encephalopathy, including those with presumed hypoxic ischemic encephalopathy in whom the degree of encephalopathy is not expected from perinatal history, cord gases and/or neuroimaging.
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Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems ofedic services in Porto Alegre, Brazil. The screened patients presented with articular manifestations with no defined etiology. These patients were screened by quantitative and qualitative assessment of urinary GAGs...: Among the 55 cases investigated, one 15-year-old patient exhibited increased urin
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A. Ahmed,K. Rudser,A. Kunin-Batson,K. Delaney,C. Whitley,E. Shapiroediction problems. It provides a tutorial on how to design, adapt, and evaluate artificial neural networks as well, and includes source codes for most of the proposed techniques as supplementary materials..978-3-030-06572-0978-3-319-93025-1Series ISSN 1860-949X Series E-ISSN 1860-9503
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Karen Campo,Gabriela Castro,Valerie Hamilton,Juan Francisco Cabello,Erna Raimann,Carolina Arias,Veróediction problems. It provides a tutorial on how to design, adapt, and evaluate artificial neural networks as well, and includes source codes for most of the proposed techniques as supplementary materials..978-3-030-06572-0978-3-319-93025-1Series ISSN 1860-949X Series E-ISSN 1860-9503
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Esther Schrapers,Laura C. Tegtmeyer,Gunter Simic-Schleicher,Volker Debus,Janine Reunert,Sebastian Baediction problems. It provides a tutorial on how to design, adapt, and evaluate artificial neural networks as well, and includes source codes for most of the proposed techniques as supplementary materials..978-3-030-06572-0978-3-319-93025-1Series ISSN 1860-949X Series E-ISSN 1860-9503
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Book 2016JIMD Reports publishes case and short researchreports in the area of inherited metabolic disorders. Case reports highlightsome unusual or previously unrecorded feature relevant to the disorder, orserve as an important reminder of clinical or biochemical features of aMendelian disorder.
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