Detalhe da pesquisa
1.
Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.
Proc Natl Acad Sci U S A
; 119(46): e2210247119, 2022 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36343260
2.
Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.
Am J Hum Genet
; 108(4): 535-548, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33798442
3.
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Am J Hum Genet
; 107(2): 352-363, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32693025
4.
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.
Genet Med
; 24(7): 1425-1436, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35471153
5.
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.
Mol Genet Metab
; 127(4): 336-345, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31326288
6.
Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(7): 683-691, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29543224
7.
Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations.
Headache
; 56(1): 215-21, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26678622
8.
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.
Mol Genet Metab
; 116(1-2): 35-43, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26026794
9.
Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.
J Pediatr
; 164(4): 720-725.e6, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24485820
10.
41-Year-Old Male with Sub-Acute Encephalopathy, Seizures, and End Stage Renal Disease: A Unifying Diagnosis and Response to Therapy.
Neurohospitalist
; 14(1): 69-73, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38235033
11.
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
Orphanet J Rare Dis
; 18(1): 378, 2023 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38042851
12.
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
NPJ Genom Med
; 8(1): 10, 2023 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37236975
13.
Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency.
Mol Genet Metab
; 105(2): 263-5, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22129577
14.
Urea cycle disorders: brain MRI and neurological outcome.
Pediatr Radiol
; 42(4): 455-62, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21989980
15.
Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients.
Orphanet J Rare Dis
; 17(1): 25, 2022 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35093147
16.
The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health.
Front Pediatr
; 9: 663752, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34350142
17.
Application of full-genome analysis to diagnose rare monogenic disorders.
NPJ Genom Med
; 6(1): 77, 2021 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34556655
18.
Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).
Hum Mutat
; 31(8): 924-9, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20524213
19.
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.
Mol Genet Metab
; 100 Suppl 1: S97-105, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20188616
20.
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
Ann Neurol
; 65(5): 550-6, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19142996