Detalhe da pesquisa
1.
Successful treatment with anakinra in generalized spiculated porokeratosis and severe hidradenitis suppurativa in a patient with MVK and MEFV mutations.
Clin Exp Dermatol
; 48(2): 161-165, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36730507
2.
Proteinuria and progressive kidney failure due to an inborn error of metabolism: Answers.
Pediatr Nephrol
; 36(7): 2055-2058, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33459931
3.
Proteinuria and progressive kidney failure due to an inborn error of metabolism: Questions.
Pediatr Nephrol
; 36(7): 2053-2054, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33459930
4.
A Novel Interleukin 17 Receptor A Mutation in a Child with Chronic Mucocutaneous Candidiasis and Staphylococcal Skin Infections.
Turk Arch Pediatr
; 58(4): 442-447, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37317577
5.
The First Case of 4H Syndrome with Type 1 Diabetes Mellitus.
J Clin Res Pediatr Endocrinol
; 2023 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36974356
6.
Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood.
Turk J Pediatr
; 63(6): 1097-1102, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35023662
7.
Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis
J Clin Res Pediatr Endocrinol
; 13(1): 34-43, 2021 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32938580
8.
A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis.
J Pediatr Endocrinol Metab
; 33(5): 665-669, 2020 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32229667
9.
New Onset Mitral Regurgitation Caused by Mitral Valve Prolapse in a Male Patient with Dominant Pretibial Dystrophic Epidermolysis Bullosa.
Indian J Dermatol
; 67(1): 72-74, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35656246