Detalhe da pesquisa
1.
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease.
J Inherit Metab Dis
; 47(2): 327-339, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38112342
2.
Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease.
Neurol Sci
; 43(5): 3273-3281, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34800199
3.
Extremely low birthweight neonates with phenylketonuria require special dietary management.
Acta Paediatr
; 110(11): 2994-2999, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34289149
4.
Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study.
J Inherit Metab Dis
; 43(5): 1060-1069, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32324281
5.
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
Mol Genet Metab
; 119(1-2): 160-7, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27553878
6.
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C).
BMC Pediatr
; 16: 107, 2016 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27449637
7.
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
Am J Hum Genet
; 89(2): 241-52, 2011 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21820099
8.
A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people.
Front Med (Lausanne)
; 10: 1096869, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36844206
9.
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Orphanet J Rare Dis
; 17(1): 51, 2022 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35164809
10.
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
Genes (Basel)
; 12(12)2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946867
11.
X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations.
Neuro Endocrinol Lett
; 42(5): 359-367, 2021 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34506099
12.
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
Orphanet J Rare Dis
; 15(1): 85, 2020 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32248828
13.
Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease.
J Neurol
; 266(8): 1953-1959, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31076878
14.
Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1.
Mov Disord Clin Pract
; 7(Suppl 3): S85-S88, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33015233
15.
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.
Orphanet J Rare Dis
; 9: 140, 2014 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25236789
16.
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.
Eur J Hum Genet
; 21(10): 1067-73, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23386035