Detalhe da pesquisa
1.
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
2.
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
3.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
J Inherit Metab Dis
; 2023 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37452721
4.
Evaluation of sleep-disordered breathing and its relationship with respiratory parameters in children with mucopolysaccharidosis Type IVA and VI.
Am J Med Genet A
; 185(8): 2306-2314, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33960649
5.
Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride.
Gynecol Endocrinol
; 33(1): 19-20, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27898272
6.
A rare cause of cutaneous ulceration: Prolidase deficiency.
Int Wound J
; 16(4): 1057-1058, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31087532
7.
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.
J Hum Genet
; 58(10): 675-8, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23924834
8.
Efficacy of Tele-CO-OP in Children With Organic Acidemia: A Pilot Randomized Controlled Trial.
OTJR (Thorofare N J)
; 43(3): 417-425, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36929771
9.
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
10.
Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria.
Nutrients
; 15(18)2023 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37764724
11.
Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.
Mol Genet Metab
; 106(4): 419-23, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22727635
12.
When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center.
Turk J Pediatr
; 54(1): 52-8, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22397043
13.
Vascular and structural analyses of retinal and choroidal alterations in Fabry disease: the effect of hyperreflective foci and retinal vascular tortuosity.
Ophthalmic Genet
; 43(3): 344-353, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35038962
14.
Gyrate atrophy of the choroid and retina: a case report.
Turk J Pediatr
; 53(1): 94-6, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21534348
15.
Caring for a Child with Phenylketonuria: Parental Experiences from a Eurasian Country.
J Dev Behav Pediatr
; 41(3): 195-202, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31688717
16.
Molecular genetics of maple syrup urine disease in the Turkish population.
Turk J Pediatr
; 51(2): 97-102, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19480318
17.
Coexistence of cystic fibrosis with other genetic disorders: A case series.
Pediatr Pulmonol
; 58(1): 345-347, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36193028
18.
A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis.
Turk J Pediatr
; 59(6): 693-695, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-30035403
19.
Screening for mucopolysaccharidoses in the Turkish population: Analytical and clinical performance of an age-range specific, dye-based, urinary glycosaminoglycan assay.
Clin Chim Acta
; 464: 72-78, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27864098
20.
A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation.
Clin Dysmorphol
; 26(1): 1-12, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27547915