Search details
1.
Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation.
N Engl J Med
; 387(15): 1395-1403, 2022 10 13.
Article
in English
| MEDLINE | ID: mdl-36239646
2.
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.
Article
in English
| MEDLINE | ID: mdl-36520152
3.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36305855
4.
Methodologies in Mitochondrial Testing: Diagnosing a Primary Mitochondrial Respiratory Chain Disorder.
Clin Chem
; 69(6): 564-582, 2023 06 01.
Article
in English
| MEDLINE | ID: mdl-37099687
5.
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.
Article
in English
| MEDLINE | ID: mdl-37903659
6.
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.
Genet Med
; 24(2): 319-331, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34906466
7.
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.
Article
in English
| MEDLINE | ID: mdl-36182714
8.
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.
Mol Genet Metab
; 135(1): 93-101, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34969639
9.
Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening.
Mol Genet Metab
; 134(1-2): 37-42, 2021.
Article
in English
| MEDLINE | ID: mdl-34176718
10.
COXPD9 in an individual from Puerto Rico and literature review.
Am J Med Genet A
; 185(8): 2519-2525, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34008913
11.
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Hum Mol Genet
; 27(19): 3305-3312, 2018 10 01.
Article
in English
| MEDLINE | ID: mdl-29917077
12.
Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.
Am J Med Genet A
; 182(2): 365-373, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31825167
13.
Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines.
Curr Opin Pediatr
; 32(6): 707-718, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33105273
14.
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
Hum Mutat
; 40(5): 499-515, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30763462
15.
Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.
J Inherit Metab Dis
; 42(1): 140-146, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30740726
16.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100828, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-37272928
17.
Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder.
Clin Chem
; 69(6): 661-664, 2023 06 01.
Article
in English
| MEDLINE | ID: mdl-37258485
18.
8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease.
Mol Genet Metab
; 123(3): 301-308, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29428506
19.
Hospitalizations for mitochondrial disease across the lifespan in the U.S.
Mol Genet Metab
; 121(2): 119-126, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28442181
20.
Normal Biomarkers in an Acute Presentation in a Known Case of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
Clin Chem
; 67(12): 1735-1737, 2021 11 26.
Article
in English
| MEDLINE | ID: mdl-34850845