Detalhe da pesquisa
1.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Am J Hum Genet
; 108(9): 1669-1691, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34314705
2.
A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria.
Mol Genet Metab
; 142(3): 108495, 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38772223
3.
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Genet Med
; 24(4): 851-861, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930662
4.
Distinct cord blood C-peptide, adipokine, and lipidomic signatures by in utero HIV exposure.
Pediatr Res
; 92(1): 233-241, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34446848
5.
Parasitic Disease Surveillance, Mississippi, USA.
Emerg Infect Dis
; 27(8): 2201-2204, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34287125
6.
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.
Hum Mol Genet
; 28(4): 598-614, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30335141
7.
Factors Associated with Positive SARS-CoV-2 Test Results in Outpatient Health Facilities and Emergency Departments Among Children and Adolescents Aged <18 Years - Mississippi, September-November 2020.
MMWR Morb Mortal Wkly Rep
; 69(50): 1925-1929, 2020 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33332298
8.
Diaphragmatic Spasms: A Rare Presentation of a Glomangioma.
Dermatol Surg
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38754127
9.
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Mol Genet Metab
; 123(3): 337-346, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29397290
10.
Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency).
Genet Med
; 18(1): 34-40, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25834946
11.
Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United States.
Mol Genet Metab
; 116(4): 226-30, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26549574
12.
Deconstructing Black Swans: An Introductory Approach to Inherited Metabolic Disorders in the Neonate.
Adv Neonatal Care
; 15(4): 241-7; quiz E1-2, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26225592
13.
The incidence of urea cycle disorders.
Mol Genet Metab
; 110(1-2): 179-80, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23972786
14.
A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment.
bioRxiv
; 2023 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36778323
15.
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.
J Pers Med
; 13(7)2023 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511639
16.
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.
J Inherit Metab Dis
; 35(6): 1119-28, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22481384
17.
LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations.
Mol Genet Metab Rep
; 30: 100844, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35242575
18.
Asynchronous telemedicine for clinical genetics consultations in the NICU: a single center's solution.
J Perinatol
; 42(2): 262-268, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34302053
19.
Metabolomics in Placental Tissue from Women Living with HIV.
AIDS Res Hum Retroviruses
; 38(3): 198-207, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34498948
20.
Acylcarnitines and Genetic Variation in Fat Oxidation Genes in HIV-infected, Antiretroviral-treated Children With and Without Myopathy.
Pediatr Infect Dis J
; 41(8): e306-e311, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35622436