Detalhe da pesquisa
1.
Mucopolysaccharidosis type VII (Sly syndrome) - What do we know?
Mol Genet Metab
; 141(3): 108145, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38301529
2.
Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study.
Nephrology (Carlton)
; 29(4): 201-213, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38290500
3.
Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease.
Int Arch Allergy Immunol
; 184(4): 370-375, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36623499
4.
Chemically modified recombinant human sulfamidase (SOBI003) in mucopolysaccharidosis IIIA patients: Results from an open, non-controlled, multicenter study.
Mol Genet Metab
; 136(4): 249-259, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35835061
5.
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.
J Pediatr
; 249: 50-58.e2, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35709957
6.
Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features.
Am J Med Genet A
; 185(9): 2739-2747, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-33960646
7.
Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr.
Am J Med Genet A
; 185(9): 2636-2645, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-33913595
8.
Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?
J Bone Miner Metab
; 39(4): 598-605, 2021 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-33404770
9.
Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature.
BMC Pediatr
; 21(1): 175, 2021 04 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33858366
10.
Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review.
Am J Med Genet A
; 182(7): 1608-1614, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32259399
11.
Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa.
Ann Nutr Metab
; 76(4): 233-241, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32712609
12.
Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features
Turk J Med Sci
; 50(4): 1048-1061, 2020 06 23.
Artigo
Inglês
| MEDLINE | ID: mdl-32011835
13.
A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects.
J Clin Immunol
; 39(7): 726-738, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31432443
14.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
N Engl J Med
; 375(6): 545-55, 2016 Aug 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27509102
15.
Giant thymic cyst overclouding the diagnosis of fibrodysplasia ossificans progressiva: an inconvenient coincidence.
Rheumatology (Oxford)
; 63(4): e123-e125, 2024 Apr 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37935436
16.
The role of IFIH1 gene rs1990760 and rs2111485 single-nucleotide polymorphisms in generalized vitiligo predisposition
Turk J Med Sci
; 49(1): 206-211, 2019 Feb 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30761886
17.
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
N Engl J Med
; 373(11): 1010-20, 2015 Sep 10.
Artigo
Inglês
| MEDLINE | ID: mdl-26352813
18.
Patient With Niemann-Pick Type C Presenting With a Jaw Mass Characterized With Lymph Node Involvement by Niemann-Pick Cells.
J Pediatr Hematol Oncol
; 40(3): 243-245, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28692552
19.
Hematologic Findings of Inherited Metabolic Disease: They are More Than Expected.
J Pediatr Hematol Oncol
; 40(5): 355-359, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29746437
20.
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
J Med Genet
; 53(6): 403-18, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26908836