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Jimd Reports, Volume 28

Jimd Reports, Volume 28

          
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About the Book

Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.- Novel Direct Assay for Acetyl-CoA: α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate.- Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy.- The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better?.- Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.- LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.- Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.- Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS.- Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency.- Enhancement by Uridine Diphosphate of Macrophage Inflammatory Protein-1 Alpha Production in Microglia Derived from Sandhoff Disease Model Mice.- In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease.- In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History.- Multiple, Successful Pregnancies in Pompe Disease.- Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.- Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014)


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Product Details
  • ISBN-13: 9783662528464
  • Publisher: Springer-Verlag Berlin and Heidelberg GmbH & Co. KG
  • Binding: Paperback
  • Height: 279 mm
  • No of Pages: 135
  • Series Title: Jimd Reports
  • Weight: 340 gr
  • ISBN-10: 3662528460
  • Publisher Date: 27 Oct 2016
  • Edition: 1st ed. 2016
  • Language: English
  • Returnable: Y
  • Spine Width: 8 mm
  • Width: 210 mm


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