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Jimd Reports, Volume 35

Jimd Reports, Volume 35


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About the Book

Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability .- Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.- Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital.- Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report and Review of the Literature.- Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient.- Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.- Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?.- Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience.- The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening.- Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency.- Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation.- Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts.- Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria.- Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis.- Cognitive Development in a Young Child with Mucolipidosis Type IV: A Case Report.- White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother.- Erratum to: White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother.


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Product Details
  • ISBN-13: 9783662558324
  • Publisher: Springer-Verlag Berlin and Heidelberg GmbH & Co. KG
  • Binding: Paperback
  • Height: 279 mm
  • No of Pages: 117
  • Series Title: Jimd Reports
  • Weight: 349 gr
  • ISBN-10: 3662558327
  • Publisher Date: 20 Sep 2017
  • Edition: 1st ed. 2017
  • Language: English
  • Returnable: Y
  • Spine Width: 7 mm
  • Width: 210 mm


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