Detalhe da pesquisa
1.
Clinical and Osteopetrosis-Like Radiological Findings in Patients with Leukocyte Adhesion Deficiency Type III.
J Clin Immunol
; 43(6): 1250-1258, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37014583
2.
COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity.
Mol Genet Metab
; 139(2): 107607, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37201420
3.
Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy.
Mol Genet Metab
; 140(3): 107706, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37837865
4.
Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience.
Am J Med Genet A
; 188(8): 2367-2375, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35535755
5.
Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study.
Eur J Med Genet
; 68: 104927, 2024 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38382588
6.
Successful management of rhabdomyolysis with triheptanoin in a child with severe long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.
Neuromuscul Disord
; 33(4): 315-318, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36893607
7.
Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases.
Mol Syndromol
; 13(3): 193-199, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35707594
8.
Two tales of LPIN1 deficiency: from fatal rhabdomyolysis to favorable outcome of acute compartment syndrome.
Neuromuscul Disord
; 32(11-12): 931-934, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36195520
9.
Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients
Balkan Med J
; 39(5): 345-350, 2022 09 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35965426
10.
Invisible burden of COVID-19: enzyme replacement therapy disruptions.
J Pediatr Endocrinol Metab
; 34(5): 539-545, 2021 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33818036
11.
COVID-19-related anxiety in phenylketonuria patients.
Turk J Pediatr
; 63(5): 790-800, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34738361
12.
Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.
Eur J Med Genet
; 64(11): 104340, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34509675