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Produktbild: JIMD Reports, Volume 35
Band 35

JIMD Reports, Volume 35

Aus der Reihe JIMD Reports

97,99 €

inkl. gesetzl. MwSt., Versandkostenfrei

Beschreibung

Produktdetails

Einband

Taschenbuch

Erscheinungsdatum

20.09.2017

Abbildungen

VI, 117 p. 20 illus., 10 illus. in color.

Herausgeber

Eva Morava + weitere

Verlag

Springer Berlin

Seitenzahl

117

Maße (B/H)

21/27,9 cm

Gewicht

323 g

Auflage

1st ed. 2017

Sprache

Englisch

ISBN

978-3-662-55832-4

Beschreibung

Produktdetails

Einband

Taschenbuch

Erscheinungsdatum

20.09.2017

Abbildungen

VI, 117 p. 20 illus., 10 illus. in color.

Herausgeber

Verlag

Springer Berlin

Seitenzahl

117

Maße (B/H)

21/27,9 cm

Gewicht

323 g

Auflage

1st ed. 2017

Sprache

Englisch

ISBN

978-3-662-55832-4

Herstelleradresse

Springer Nature Customer Service Center GmbH
Europaplatz 3
69115 Heidelberg
DE
ProductSafety@springernature.com

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  • Produktbild: JIMD Reports, Volume 35

  • Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability .- Hyperammonemia as a Presenting Feature in Two Siblings with 
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    .-
    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 B
    12
     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.