Autism Spectrum Disorder and Mild Developmental Delay in a Patient with a Rare Inborn Error of Metabolism-Reference-Cited by-同舟云学术

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Autism Spectrum Disorder and Mild Developmental Delay in a Patient with a Rare Inborn Error of Metabolism

Published:2024-06 Issue:6 Volume:70 Page:882-884
ISSN:0009-9147
Container-title:Clinical Chemistry
language:en
Short-container-title:

Author:

De Biase Irene¹²^ORCID,de Dios Karl³,Brose Stephen A²,Hobert Judith A¹²

Affiliation:

1. Department of Pathology, University of Utah , Salt Lake City, UT , United States

2. ARUP Institute for Clinical and Experimental Pathology , Salt Lake City, UT , United States

3. Department of Medical Genetics, Dayton Children's Hospital , Dayton, OH United States

Publisher

Oxford University Press (OUP)

Link

https://academic.oup.com/clinchem/article-pdf/70/6/882/58036669/hvae051.pdf

Reference5 articles.

1. Progress in understanding 2-hydroxyglutaric acidurias;Kranendijk;J Inherit Metab Dis,2012

2. D-2-hydroxyglutaric aciduria type i: functional analysis of D2HGDH missense variants;Pop;Hum Mutat,2019

3. Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria;Kranendijk;Hum Mutat,2010

4. D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the d2hgdh gene;Phillips;Mol Genet Metab Rep,2019

5. An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants;Pop;J Inherit Metab Dis,2018

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