Favourable outcome in a child with symptomatic diagnosis of Glutaric aciduria type 1 despite vertical HIV infection and minor head trauma-Reference-Cited by-同舟云学术

Favourable outcome in a child with symptomatic diagnosis of Glutaric aciduria type 1 despite vertical HIV infection and minor head trauma

Published:2018-02-09 Issue:2 Volume:33 Page:537-544
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Thomas Angeline,Dobbels Els F. M.,Springer Priscilla E.,Ackermann Christelle,Cotton Mark F.,Laughton Barbara

Funder

National Institutes of Health

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Harry Crossley Foundation

South African Medical Research Foundation

National Research Foundation of South Africa

GlaxoSmithKline

Viiv Healthcare

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry

Link

http://link.springer.com/article/10.1007/s11011-018-0196-4/fulltext.html

Reference47 articles.

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2. Baric I, Wagner L, Feyh P, Liesert M, Buckel W, Hoffmann GF (1999) Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I. J Inherit Metab Dis 22(8):867–881. https://doi.org/10.1023/A:1005683222187

3. Beery KE, Beery NA (2010) Beery VMI: The Beery-Buktenica developmental test of visual-motor integration. Administration, scoring and teaching manual. 6th ed, 6th edn. Pearson, San Antonio

4. Bjugstad KB, Goodman SI, Freed CR (2000) Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type 1. J Pediatr 137(5):681–686. https://doi.org/10.1067/mpd.2000.108954

5. Boy N, Muhlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kolker S, individual c A (2017) Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis 40(1):75–101. https://doi.org/10.1007/s10545-016-9999-9

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