Detalhe da pesquisa
1.
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Am J Hum Genet
; 110(4): 681-690, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36996813
2.
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop.
Mol Genet Metab
; 141(3): 108144, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38277989
3.
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
Mol Genet Metab
; 142(2): 108486, 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38733639
4.
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.
J Inherit Metab Dis
; 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38627985
5.
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
J Inherit Metab Dis
; 46(2): 232-242, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36515074
6.
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
J Med Genet
; 59(4): 399-409, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34085948
7.
Molybdenum cofactor deficiency: A natural history.
J Inherit Metab Dis
; 45(3): 456-469, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35192225
8.
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
J Inherit Metab Dis
; 44(3): 606-617, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33190319
9.
A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.
Metab Brain Dis
; 36(4): 581-588, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33471299
10.
Gaucher disease type 3c: New patients with unique presentations and review of the literature.
Mol Genet Metab
; 127(2): 138-146, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31130326
11.
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
J Inherit Metab Dis
; 42(2): 264-275, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30689204
12.
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review.
Metab Brain Dis
; 34(2): 557-563, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30637540
13.
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.
Ann Neurol
; 82(3): 317-330, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28856750
14.
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.
Am J Med Genet A
; 173(4): 1051-1055, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328138
15.
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.
J Med Genet
; 53(2): 127-31, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26561570
16.
A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels.
Metab Brain Dis
; 32(6): 2131-2137, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28900819
17.
Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.
Neurogenetics
; 17(3): 187-90, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27122014
18.
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.
J Inherit Metab Dis
; 39(2): 211-7, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26566957
19.
Patients' Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients' Sociodemographic Background and Counseling Experience.
J Genet Couns
; 25(2): 314-24, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26371363
20.
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Hum Genet
; 134(1): 123-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25407461