Detalhe da pesquisa
1.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Am J Hum Genet
; 108(11): 2130-2144, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34653363
2.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Genet Med
; 26(2): 101013, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924258
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
em Inglês
| MEDLINE | ID: mdl-36221165
4.
[Inborn errors of metabolism: a specialty at the forefront of precision medicine]. / Maladies innées du métabolisme : un domaine pionnier de la médecine de précision.
Rev Med Suisse
; 19(815): 358-361, 2023 Feb 22.
Artigo
em Francês
| MEDLINE | ID: mdl-36815325
5.
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Genet Med
; 24(7): 1583-1591, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35499524
6.
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Genet Med
; 24(8): 1781-1788, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35503103
7.
Postauthorization safety study of betaine anhydrous.
J Inherit Metab Dis
; 45(4): 719-733, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358327
8.
A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I.
Mol Genet Metab
; 134(4): 287-300, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34799272
9.
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.
Mol Genet Metab
; 133(2): 157-181, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33965309
10.
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
em Inglês
| MEDLINE | ID: mdl-33595124
11.
[Home infusion therapy for Pompe disease: Recommendations for German-speaking countries]. / Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlungen für den deutschsprachigen Raum.
Fortschr Neurol Psychiatr
; 2021 Apr 27.
Artigo
em Alemão
| MEDLINE | ID: mdl-33906241
12.
[Home infusion therapy for Pompe disease: Recommendations for German-speaking countries]. / Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlungen für den deutschsprachigen Raum.
Fortschr Neurol Psychiatr
; 89(12): 630-636, 2021 Dec.
Artigo
em Alemão
| MEDLINE | ID: mdl-33561874
13.
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.
Genet Med
; 22(10): 1589-1597, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820246
14.
Ammonium accumulation and chemokine decrease in culture media of Gcdh-/- 3D reaggregated brain cell cultures.
Mol Genet Metab
; 126(4): 416-428, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30686684
15.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
J Inherit Metab Dis
; 42(2): 333-352, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773687
16.
Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual.
J Bone Miner Metab
; 37(2): 378-383, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29948344
17.
New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria.
Mol Genet Metab
; 124(4): 266-277, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29934063
18.
Epidemiology of mucopolysaccharidoses.
Mol Genet Metab
; 121(3): 227-240, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28595941
19.
[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example]. / L'interniste face aux maladies rares: quand y penser? L'exemple des maladies mitochondriales.
Rev Med Suisse
; 13(546): 159-163, 2017 Jan 18.
Artigo
em Francês
| MEDLINE | ID: mdl-28703515
20.
Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria.
Mol Genet Metab
; 119(1-2): 57-67, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27599447