Detalhe da pesquisa
1.
Glycosaminoglycan-induced proinflammatory cytokine levels as disease marker in mucopolysaccharidosis.
Cytokine
; 173: 156410, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924740
2.
Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance.
J Inherit Metab Dis
; 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38623712
3.
Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency.
Nutr Metab Cardiovasc Dis
; 2024 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38503616
4.
Development, optimization and validation of LC-MS/MS method for the determination of DBS GALT enzyme activity.
Anal Biochem
; 678: 115284, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37572839
5.
Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome.
Pediatr Blood Cancer
; 70(7): e30334, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37046411
6.
Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy.
J Neurogenet
; 35(1): 23-28, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33216650
7.
Coexistence of Gaucher Disease and severe congenital neutropenia.
Blood Cells Mol Dis
; 76: 1-6, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30473482
8.
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
N Engl J Med
; 373(11): 1010-20, 2015 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26352813
9.
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
Mol Genet Metab
; 122(1-2): 67-75, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28689740
10.
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
Mol Genet Metab
; 121(3): 206-215, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28583327
11.
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
J Med Genet
; 53(6): 403-18, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908836
12.
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Mol Genet Metab
; 119(1-2): 44-9, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27477828
13.
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.
Neuropediatrics
; 46(2): 98-103, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25642805
14.
The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
Hum Genet
; 133(1): 29-39, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23982343
15.
Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.
Mol Genet Metab
; 113(4): 267-73, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25410056
16.
Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.
Metab Brain Dis
; 29(3): 809-12, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24788897
17.
[LDL apheresis in the treatment of familial hypercholesterolemia]. / Ailevi hiperkolesterolemi tedavisinde LDL aferezi.
Turk Kardiyol Dern Ars
; 42 Suppl 2: 32-46, 2014 Oct.
Artigo
em Turco
| MEDLINE | ID: mdl-25693361
18.
Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels.
ACS Omega
; 9(7): 7621-7633, 2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38405530
19.
Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form.
J Pediatr Endocrinol Metab
; 37(1): 33-41, 2024 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37925743
20.
Patients with Gaucher type 1: Switching from imiglucerase to miglustat therapy.
Blood Cells Mol Dis
; 68: 180-184, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28111116