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1.
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Genet Med
; 22(3): 538-546, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31723249
2.
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
Mol Genet Metab
; 119(1-2): 50-6, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27397597
3.
A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease.
J Endocr Soc
; 5(2): bvaa196, 2021 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33490854
4.
Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.
JIMD Rep
; 56(1): 70-81, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-33204598
5.
Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant.
Mol Genet Metab Rep
; 21: 100537, 2019 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-31844627
6.
Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism.
Pediatr Clin North Am
; 65(2): 209-230, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29502910
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