Detalhe da pesquisa
1.
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Hum Mol Genet
; 32(6): 917-933, 2023 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36190515
2.
Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.
Mol Genet Metab
; 140(3): 107675, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37572574
3.
Effects of Infantile Hypophosphatasia on Human Dental Tissue.
Calcif Tissue Int
; 112(3): 308-319, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36414794
4.
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Am J Hum Genet
; 105(1): 132-150, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230720
5.
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
Clin Genet
; 100(6): 766-770, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34490615
6.
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.
J Inherit Metab Dis
; 44(4): 893-902, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33638202
7.
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
J Inherit Metab Dis
; 44(5): 1272-1287, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34145613
8.
Recessive mutations in VPS13D cause childhood onset movement disorders.
Ann Neurol
; 83(6): 1089-1095, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29518281
9.
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
Am J Hum Genet
; 97(6): 894-903, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637979
10.
SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.
Genet Med
; 20(2): 259-268, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28749473
11.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Ann Neurol
; 82(6): 1004-1015, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29205472
12.
Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a.
Childs Nerv Syst
; 34(3): 581-584, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29167993
13.
Phenotype in an Infant with SOD1 Homozygous Truncating Mutation.
N Engl J Med
; 381(5): 486-488, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31314961
14.
Cantú syndrome is caused by mutations in ABCC9.
Am J Hum Genet
; 90(6): 1094-101, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22608503
15.
Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature.
Liver Transpl
; 20(4): 464-72, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24478274
16.
Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany - a mixed-methods study.
Orphanet J Rare Dis
; 19(1): 197, 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38741100
17.
Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors.
Mol Genet Metab Rep
; 35: 100977, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37275680
18.
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1.
Brain Commun
; 5(1): fcad017, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36793789
19.
Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants.
Genes (Basel)
; 12(11)2021 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828390
20.
Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Ophthalmic Genet
; 42(1): 23-27, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33107778