Detalhe da pesquisa
1.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 47(3): 447-462, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38499966
2.
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.
Mol Genet Metab
; 137(1-2): 114-126, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36027720
3.
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
J Inherit Metab Dis
; 44(4): 1070-1082, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443316
4.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
J Inherit Metab Dis
; 44(6): 1489-1502, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245036
5.
Correction to: DNAJC12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
Metab Brain Dis
; 36(6): 1411, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34106389
6.
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
Metab Brain Dis
; 36(6): 1405-1410, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34014443
7.
Recommendations on phenylketonuria in Turkey.
Turk J Pediatr
; 64(3): 413-434, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35899555
8.
Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency
J Clin Res Pediatr Endocrinol
; 14(3): 275-286, 2022 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35308014
9.
Increased ocular wall thickness and decreased globe volume in children with mucopolysaccharidosis type VI.
Diagn Interv Radiol
; 28(5): 516-521, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36218154
10.
Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI.
NEJM Evid
; 1(7): EVIDoa2200052, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38319253
11.
Home visits in phenylketonuria: a 12-month longitudinal study.
Turk J Pediatr
; 53(2): 149-53, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21853651
12.
Difficulties Associated with Enzyme Replacement Therapy for Mucopolysaccharidoses.
Turk Arch Pediatr
; 56(6): 602-609, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35110060
13.
Complicated peripartum course in a patient with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency.
Neuromuscul Disord
; 31(6): 566-569, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33965301
14.
COVID-19-related anxiety in phenylketonuria patients.
Turk J Pediatr
; 63(5): 790-800, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34738361
15.
A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials.
Mol Genet Metab Rep
; 29: 100810, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34815941
16.
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Nat Commun
; 12(1): 5529, 2021 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34545092
17.
Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients.
Eur J Med Genet
; 63(11): 104032, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32777384
18.
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Orphanet J Rare Dis
; 15(1): 202, 2020 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32758270
19.
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Orphanet J Rare Dis
; 15(1): 126, 2020 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32456656
20.
Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.
J Inherit Metab Dis
; 32 Suppl 1: S235-9, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19517265