Detalhe da pesquisa
1.
Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant.
Differentiation
; 131: 74-81, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37167860
2.
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
J Inherit Metab Dis
; 46(4): 554-572, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37243446
3.
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Brain
; 145(7): 2602-2616, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35104841
4.
The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.
Hum Mol Genet
; 29(13): 2109-2123, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32186706
5.
Severity modeling of propionic acidemia using clinical and laboratory biomarkers.
Genet Med
; 23(8): 1534-1542, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34007002
6.
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
em Inglês
| MEDLINE | ID: mdl-33820958
7.
Chronic kidney disease in propionic acidemia.
Genet Med
; 21(12): 2830-2835, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31249402
8.
Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis.
PLoS Genet
; 10(10): e1004575, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25329635
9.
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Am J Hum Genet
; 93(3): 506-14, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24011988
10.
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
em Inglês
| MEDLINE | ID: mdl-26270765
11.
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency.
Genet Med
; 18(4): 396-404, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26270766
12.
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
em Inglês
| MEDLINE | ID: mdl-33972722
13.
Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.
Ophthalmology
; 123(3): 571-82, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26825575
14.
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.
Proc Natl Acad Sci U S A
; 110(33): 13552-7, 2013 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-23898205
15.
Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).
Am J Med Genet A
; 167A(9): 2075-84, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25959030
16.
Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patients.
J Inherit Metab Dis
; 38(5): 847-53, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25985870
17.
Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.
J Inherit Metab Dis
; 38(5): 839-46, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25567501
18.
A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia.
J Inherit Metab Dis
; 37(6): 899-907, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24961826
19.
Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney.
Pediatr Nephrol
; 29(11): 2139-46, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24865477
20.
Severe heart failure in a unique case of cobalamin-C-deficiency resolved with LVAD implantation and subsequent heart transplantation.
Mol Genet Metab Rep
; 39: 101089, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38745823