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170905s2017 gw | s |||| 0|eng d |
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|a 9783662558331
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|a 10.1007/978-3-662-55833-1
|2 doi
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| 040 |
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|a Sistema de Bibliotecas del Tecnológico de Costa Rica
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| 245 |
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|a JIMD Reports, Volume 35 /
|c edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.
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| 250 |
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|a 1st ed. 2017.
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| 260 |
# |
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|a Berlin, Heidelberg :
|b Springer Berlin Heidelberg :
|b Imprint: Springer,
|c 2017.
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| 300 |
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|a VI, 117 p. 20 illus., 10 illus. in color. :
|b online resource.
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| 336 |
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|a text
|b txt
|2 rdacontent
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| 337 |
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|a computer
|b c
|2 rdamedia
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| 338 |
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|a online resource
|b cr
|2 rdacarrier
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| 490 |
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|a JIMD Reports,
|v 35
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| 505 |
0 |
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|a 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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| 650 |
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0 |
|a Human genetics.
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| 650 |
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0 |
|a Metabolic diseases.
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| 650 |
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|a Pediatrics.
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| 650 |
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|a Molecular biology.
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| 650 |
1 |
4 |
|a Human Genetics.
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| 650 |
2 |
4 |
|a Metabolic Diseases.
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| 650 |
2 |
4 |
|a Pediatrics.
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| 650 |
2 |
4 |
|a Molecular Medicine.
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| 700 |
1 |
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|a Morava, Eva.
|e editor.
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| 700 |
1 |
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|a Baumgartner, Matthias.
|e editor.
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| 700 |
1 |
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|a Patterson, Marc.
|e editor.
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| 700 |
1 |
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|a Rahman, Shamima.
|e editor.
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| 700 |
1 |
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|a Zschocke, Johannes.
|e editor.
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| 700 |
1 |
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|a Peters, Verena.
|e editor.
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| 710 |
2 |
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|a SpringerLink (Online service)
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| 773 |
0 |
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|t Springer eBooks
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