Detalhe da pesquisa
1.
Liver Transplantation in a Woman with Mahvash Disease.
N Engl J Med
; 389(21): 1972-1978, 2023 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37991855
2.
Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation.
N Engl J Med
; 387(15): 1395-1403, 2022 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36239646
3.
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.
Genet Med
; 25(2): 100332, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36520152
4.
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Genet Med
; 25(9): 100897, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37191094
5.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305855
6.
Methodologies in Mitochondrial Testing: Diagnosing a Primary Mitochondrial Respiratory Chain Disorder.
Clin Chem
; 69(6): 564-582, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37099687
7.
Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers.
Mol Genet Metab
; 140(1-2): 107710, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37903659
8.
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.
Genet Med
; 24(2): 319-331, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906466
9.
Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis.
Mol Genet Metab
; 135(4): 342-349, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216885
10.
Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease.
Mol Genet Metab
; 137(3): 230-238, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36182714
11.
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.
Mol Genet Metab
; 135(1): 93-101, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34969639
12.
Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature.
Am J Med Genet A
; 188(11): 3312-3317, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35972040
13.
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
J Inherit Metab Dis
; 45(5): 996-1012, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35621276
14.
Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes.
Mol Genet Metab
; 134(4): 301-308, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34862134
15.
Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening.
Mol Genet Metab
; 134(1-2): 37-42, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176718
16.
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.
Mol Genet Metab
; 132(2): 146-153, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33485800
17.
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.
Ann Neurol
; 88(2): 218-232, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32445240
18.
COXPD9 in an individual from Puerto Rico and literature review.
Am J Med Genet A
; 185(8): 2519-2525, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34008913
19.
Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas.
Am J Med Genet A
; 185(2): 566-570, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33251707
20.
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Hum Mol Genet
; 27(19): 3305-3312, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29917077