Detalhe da pesquisa
1.
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria.
Hum Mol Genet
; 32(17): 2717-2734, 2023 08 26.
Artigo
Inglês
| MEDLINE | ID: mdl-37369025
2.
How guideline development has informed clinical research for organic acidurias (et vice versa).
J Inherit Metab Dis
; 46(3): 520-535, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36591944
3.
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
J Inherit Metab Dis
; 46(3): 482-519, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36221165
4.
Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing.
Hum Mol Genet
; 29(12): 1969-1985, 2020 07 29.
Artigo
Inglês
| MEDLINE | ID: mdl-32068834
5.
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.
Hum Genet
; 141(7): 1253-1267, 2022 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-34796408
6.
Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I.
J Inherit Metab Dis
; 45(2): 235-247, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34671989
7.
Postauthorization safety study of betaine anhydrous.
J Inherit Metab Dis
; 45(4): 719-733, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35358327
8.
Mitochondrial damage in renal epithelial cells is potentiated by protein exposure in propionic aciduria.
J Inherit Metab Dis
; 44(6): 1330-1342, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34297429
9.
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
J Inherit Metab Dis
; 44(1): 193-214, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32754920
10.
Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise.
J Inherit Metab Dis
; 44(1): 9-21, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32412122
11.
Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
J Inherit Metab Dis
; 44(3): 677-692, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33295057
12.
Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set.
J Inherit Metab Dis
; 44(1): 215-225, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32785952
13.
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
J Inherit Metab Dis
; 44(3): 566-592, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33595124
14.
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
J Inherit Metab Dis
; 44(3): 629-638, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33274439
15.
Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis.
J Hum Genet
; 65(2): 91-98, 2020 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-31645654
16.
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Ann Neurol
; 86(1): 116-128, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31018246
17.
Exome Sequencing and the Management of Neurometabolic Disorders.
N Engl J Med
; 374(23): 2246-55, 2016 Jun 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27276562
18.
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria.
Mol Genet Metab
; 128(4): 444-451, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31648943
19.
Glycemic control and complications in glycogen storage disease type I: Results from the Swiss registry.
Mol Genet Metab
; 126(4): 355-361, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30846352
20.
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
Ann Neurol
; 83(5): 970-979, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29665094