Detalhe da pesquisa
1.
Biotinidase deficiency: What have we learned in forty years?
Mol Genet Metab
; 138(4): 107560, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37027963
2.
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
Am J Med Genet A
; 185(12): 3831-3837, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34296525
3.
When Simple Phlebotomy Is the Cure: Porphyria Cutanea Tarda.
J Gen Intern Med
; 37(13): 3489-3490, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35879535
4.
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant.
Sci Rep
; 14(1): 1117, 2024 01 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38212351
5.
Classical homocystinuria, is it safe to exercise?
Mol Genet Metab Rep
; 27: 100746, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-33868930
6.
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Mol Autism
; 12(1): 69, 2021 10 26.
Artigo
Inglês
| MEDLINE | ID: mdl-34702355
7.
Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.
Front Neurol
; 11: 516799, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33192963