JIMD Reports, Volume 35 /
| Autor Corporativo: | |
|---|---|
| Otros Autores: | , , , , , |
| Formato: | eBook |
| Lenguaje: | English |
| Publicado: |
Berlin, Heidelberg :
Springer Berlin Heidelberg : Imprint: Springer,
2017.
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| Edición: | 1st ed. 2017. |
| Colección: | JIMD Reports,
35 |
| Materias: |
Tabla de Contenidos:
- 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.