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1.
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
BMC Pediatr;
24(1): 37, 2024 Jan 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-38216926
2.
A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis.
J Clin Immunol;
43(8): 2011-2021, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37695435
3.
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.
Hum Mutat;
43(3): 305-315, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35026043
4.
Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?
Am J Med Genet A;
173(6): 1593-1600, 2017 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-28440577
5.
Five-month-old male with chronic diarrhea.
Paediatr Child Health;
25(8): 483-484, 2020 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-33354255
6.
Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series.
Front Neurol;
14: 1265115, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38073635
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