Detalhe da pesquisa
1.
Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.
Mol Psychiatry
; 2024 Jan 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38200289
2.
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.
Am J Hum Genet
; 103(2): 276-287, 2018 08 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30075114
3.
Severity modeling of propionic acidemia using clinical and laboratory biomarkers.
Genet Med
; 23(8): 1534-1542, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34007002
4.
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Genet Med
; 23(8): 1522-1533, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33820958
5.
Chronic kidney disease in propionic acidemia.
Genet Med
; 21(12): 2830-2835, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31249402
6.
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Hum Mol Genet
; 29(6): 1054, 2020 04 15.
Artigo
Inglês
| MEDLINE | ID: mdl-32016392
7.
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.
Genet Med
; 18(4): 386-95, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26270765
8.
Correction to: 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Genet Med
; 23(11): 2233, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-33972722
9.
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Hum Mol Genet
; 22(5): 1026-38, 2013 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-23221805
10.
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
Am J Hum Genet
; 90(5): 836-46, 2012 May 04.
Artigo
Inglês
| MEDLINE | ID: mdl-22541557
11.
Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.
Blood
; 132(6): 658-662, 2018 08 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29784638
12.
Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects.
Am J Med Genet A
; 167A(10): 2459-62, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26059211
13.
Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.
Am J Hum Genet
; 88(4): 402-21, 2011 Apr 08.
Artigo
Inglês
| MEDLINE | ID: mdl-21473982
14.
Apparent germline mosaicism for a novel 19p13.13 deletion disrupting NFIX and CACNA1A.
Am J Med Genet A
; 161A(5): 1105-9, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23495138
15.
Genetic associations with neonatal thyroid-stimulating hormone levels.
Pediatr Res
; 73(4 Pt 1): 484-91, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23344678
16.
Association of amino acids with common complications of prematurity.
Pediatr Res
; 73(6): 700-5, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23481552
17.
Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency.
Mol Genet Metab
; 105(2): 263-5, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22129577
18.
A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria.
Mol Genet Metab
; 107(3): 315-21, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23040521
19.
2q24 deletions: further characterization of clinical findings and their relation to the SCN cluster.
Am J Med Genet A
; 158A(11): 2767-74, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23023937
20.
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.
J Med Genet
; 48(5): 299-307, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21525063