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1 . Academic Journal
Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa
저자
by
Burcu Kumru Akin
;
Burcu Ozturk Hismi
;
Anne Daly
.
소스
Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100904- (2022)
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5 . Academic Journal
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency
저자
by
Berna Seker Yilmaz
;
Julien Baruteau
;
Nur Arslan
;
Halil Ibrahim Aydin
;
Magalie Barth
, et al.
소스
Life, Vol 12, Iss 11, p 1721 (2022)
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7 .
Mucopolysaccharidosis type 4 (Morquio syndrome): A case report
저자
by
Seçkin Akçay
;
Fırat Akagündüz
;
Osman Ölmez
;
Burcu Öztürk Hişmi
;
Hülya Gözü
.
소스
JCEM Case Reports
. 1
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7 .
Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement
저자
by
Sevil Dorum
;
Burcu Ozturk Hismi
;
Ali Topak
;
Orhan Gorukmez
;
Nur Arslan
, et al.
소스
Metabolic Brain Disease
. 36:1201-1211
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7 .
Inflammatory rheumatic diseases in patients with ochronotic arthropathy
저자
by
Fatos Onen
;
Ali Balci
;
Burcu Ozturk Hismi
;
Sadettin Uslu
;
Pelin Teke Kisa
, et al.
소스
Modern Rheumatology
. 31:1031-1037
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7 .
A surprising cause of proteinuria: Questions
저자
by
Belde Kasap Demir
;
Ali Kanık
;
Melis Köse
;
Burcu Öztürk Hişmi
;
Maşallah Baran
.
소스
Pediatric nephrology (Berlin, Germany)
. 37(5)
Scopus
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7 .
Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey
저자
by
Özlem Ünal
;
Burcu Ozturk Hismi
;
Engin Kose
;
Nur Arslan
;
Ebru Canda
, et al.
소스
Journal of Pediatric Endocrinology and Metabolism
. 32:675-681
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7 .
A Mortal Complication in a Case with Mucopolysaccharidosis type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage
저자
by
Burcu Ozturk Hismi
;
Havva Yazıcı
;
Serap Aksoylar
;
Ebru Canda
;
Baris Malbora
, et al.
소스
Journal of Dr. Behcet Uz Children s Hospital
.
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7 .
Renal–Hepatic–Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype
저자
by
Betül Aksoy
;
Maşallah Baran
;
Burcu Ozturk Hismi
;
Kader Vardı
;
Yeliz Cagan Appak
, et al.
소스
J Pediatr Genet
Open Access (OpenAIRE)
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7 .
Studying the effect of large neutral amino acid supplements on oxidative stress in phenylketonuric patients
저자
by
Davut Sinan Kaplan
;
Hakim Celik
;
Burcu Ozturk Hismi
;
Burcu Kumru
.
소스
Journal of Pediatric Endocrinology and Metabolism
. 32:269-274
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