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1.
Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
PLoS Genet
; 16(10): e1009156, 2020 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-33104717
2.
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
PLoS Genet
; 16(6): e1008841, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32544203
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29478781
4.
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
N Engl J Med
; 379(22): 2131-2139, 2018 11 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-30304647
5.
Statistically Driven Metabolite and Lipid Profiling of Patients from the Undiagnosed Diseases Network.
Anal Chem
; 92(2): 1796-1803, 2020 01 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-31742994
6.
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
J Med Genet
; 54(4): 288-296, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27834756
7.
Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.
Am J Med Genet A
; 173(9): 2500-2504, 2017 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-28657663
8.
Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I.
Epilepsia
; 58(10): 1771-1781, 2017 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28762469
9.
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
J Inherit Metab Dis
; 40(1): 75-101, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27853989
10.
Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A.
Genet Med
; 18(9): 933-9, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-26820065
11.
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
Mol Genet Metab
; 116(4): 252-9, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26490222
12.
Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1.
Biochim Biophys Acta
; 1832(10): 1463-72, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-23623985
13.
Disruption of brain redox homeostasis in glutaryl-CoA dehydrogenase deficient mice treated with high dietary lysine supplementation.
Mol Genet Metab
; 108(1): 30-9, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23218171
14.
Association of a genetic variant of carnitine palmitoyltransferase 1A with infections in Alaska Native children.
J Pediatr
; 163(6): 1716-21, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23992672
15.
The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings.
J Community Genet
; 14(6): 613-620, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37847346
16.
Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.
J Biol Chem
; 286(20): 17777-84, 2011 May 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-21454630
17.
Health effects of the CPT1A P479L variant: responsible public health policy.
Genet Med
; 19(12)2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-28771253
18.
Induction of oxidative stress in brain of glutaryl-CoA dehydrogenase deficient mice by acute lysine administration.
Mol Genet Metab
; 106(1): 31-8, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22445450
19.
Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.
Mol Genet Metab
; 107(1-2): 72-80, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22520952
20.
Reduction of Na+, K+-ATPase activity and expression in cerebral cortex of glutaryl-CoA dehydrogenase deficient mice: a possible mechanism for brain injury in glutaric aciduria type I.
Mol Genet Metab
; 107(3): 375-82, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22999741