Detalhe da pesquisa
1.
Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism.
J Inherit Metab Dis
; 46(5): 931-942, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37309295
2.
Application value of EV/EV71/CA16-SAT detection in children with hand-foot-mouth disease.
Cell Mol Biol (Noisy-le-grand)
; 69(12): 65-71, 2023 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38063116
3.
DHTKD1 and OGDH display substrate overlap in cultured cells and form a hybrid 2-oxo acid dehydrogenase complex in vivo.
Hum Mol Genet
; 29(7): 1168-1179, 2020 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32160276
4.
Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 24(4): 769-783, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35394426
5.
Murine deficiency of peroxisomal L-bifunctional protein (EHHADH) causes medium-chain 3-hydroxydicarboxylic aciduria and perturbs hepatic cholesterol homeostasis.
Cell Mol Life Sci
; 78(14): 5631-5646, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34110423
6.
Treatment of Atherosclerotic Femoropopliteal Artery Disease with Supera Interwoven Nitinol Stent: A Real-World Study in China.
Ann Vasc Surg
; 85: 183-189, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35271965
7.
The Relationship Between Serum Netrin-1 Expression Levels and Prognosis in Revascularized Patients with Acute Ischemic Stroke.
J Integr Neurosci
; 21(6): 154, 2022 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36424758
8.
Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.
Hum Mol Genet
; 28(11): 1755-1767, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30615115
9.
Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains.
Mol Genet Metab
; 132(2): 139-145, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33483254
10.
The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis.
J Inherit Metab Dis
; 44(6): 1419-1433, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34564857
11.
Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4.
FASEB J
; 33(3): 4355-4364, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30540494
12.
Deletion of 2-aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1.
J Inherit Metab Dis
; 43(6): 1154-1164, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32567100
13.
Slc22a5 haploinsufficiency does not aggravate the phenotype of the long-chain acyl-CoA dehydrogenase KO mouse.
J Inherit Metab Dis
; 43(3): 486-495, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845336
14.
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Genet Med
; 21(3): 631-640, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30093709
15.
Mild inborn errors of metabolism in commonly used inbred mouse strains.
Mol Genet Metab
; 126(4): 388-396, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30709776
16.
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(1): 3-11, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29261178
17.
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Clin Chem
; 63(4): 842-851, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28196920
18.
RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice.
Proc Natl Acad Sci U S A
; 111(21): 7777-82, 2014 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-24821812
19.
Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.
Mol Med
; 21: 487-95, 2015 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26062020
20.
[Recommendation for standardized certification of the directors of genetic diagnostics laboratories].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(1): 32-36, 2019 Jan 10.
Artigo
em Zh
| MEDLINE | ID: mdl-30722090