Detalhe da pesquisa
1.
MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
Am J Med Genet A
; 191(6): 1492-1501, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36883293
2.
Validation of a targeted metabolomics panel for improved second-tier newborn screening.
J Inherit Metab Dis
; 46(2): 194-205, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36680545
3.
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
J Inherit Metab Dis
; 46(2): 300-312, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651831
4.
Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program.
Mol Genet Metab
; 136(2): 152-162, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35459555
5.
Variable clinical severity in TANGO2 deficiency: Case series and literature review.
Am J Med Genet A
; 188(2): 473-487, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34668327
6.
Outcomes after liver transplantation in MPV17 deficiency (Navajo neurohepatopathy): A single-center case series.
Pediatr Transplant
; 26(5): e14274, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35466509
7.
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Am J Hum Genet
; 102(3): 494-504, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29478781
8.
Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype.
Mol Genet Metab
; 134(3): 217-222, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34625341
9.
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.
J Neurogenet
; 35(2): 74-83, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970744
10.
Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.
Am J Med Genet A
; 185(6): 1848-1853, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33683010
11.
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.
J Inherit Metab Dis
; 44(4): 847-856, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33325055
12.
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Mol Genet Metab
; 130(1): 58-64, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32173240
13.
Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.
J Inherit Metab Dis
; 43(5): 934-943, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32216101
14.
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
Am J Hum Genet
; 99(4): 934-941, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616479
15.
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Am J Hum Genet
; 98(5): 1001-1010, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108799
16.
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia.
Genet Med
; 21(4): 896-903, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30209273
17.
Perspectives on urea cycle disorder management: Results of a clinician survey.
Mol Genet Metab
; 128(1-2): 102-108, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31377149
18.
Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns.
Mol Genet Metab
; 126(1): 39-42, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30448007
19.
Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.
Mol Genet Metab
; 128(1-2): 122-128, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31399326
20.
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Hum Mutat
; 39(11): 1569-1580, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311390