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科言猫学术研究的AI总结
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B

Berrak Bilginer Gürbüz

Department of Pediatric Metabolism

8H指数
48论文数
182被引数
收录论文 6
发表时间
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Implementation gaps in phenylketonuria management: a multicenter clinician survey from Turkiye苯丙酮尿症管理中的实施差距：来自土耳其的多中心临床医生调查
errOrphanet Journal of Rare Diseases
IF3.5
err2026-08-06
err0
errOAAI
errEngin Köse; Berrak Bilginer Gürbüz; Halil Tuna Akar; Tuğba Akbey Koçak; Merve Aslantaş; Esra Er; Pelin Teke Kısa; İbrahim Taş; Nazmiye Tüzel Gündüz; Merve Yoldaş Çelik; Şahin Erdöl
err分享
err收藏
Phenotypic Divergence in Siblings with the Same Genotype: Diffuse Dermal Melanocytosis in Infantile-Onset Galactosialidosis同基因型同胞间的表型分歧：婴儿期发病型半乳糖唾液酸酶缺乏症的弥漫性真皮黑色素细胞增生症
errMolecular Syndromology
IF0.9
err2025-10-01
err0
PREAI
errGurbuz, Berrak Bilginer; Ozalp, Ozge
err分享
err收藏
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosisα-甘露糖苷症21例患者的造血干细胞移植结局
errJournal of Inherited Metabolic Disease
IF3.8
err2025-06-23
err0
PREAI
errRobert Šáhó; Renata Formánková; Julie B. Eisengart; Allan Meldgaard Lund; Cecilie Videbaek; Berrak Bilginer Gürbüz; Namık Yaşar Özbek; Fatma Al Jasmi; Pavel Ješina
err分享
err收藏
Outcome of hematopoietic stem cell transplantation in 19 patients with alpha-mannosidosis
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errSaho, Robert; Formankova, Renata; Eisengart, Julie B.; Lund, Allan; Videbaek, Cecilie; Gurbuz, Berrak Bilginer; Ozbek, Namik Yasar; Al Jasmi, Fatma; Jesina, Pavel; Feillet, Francois; Pochon, Cecile; Guemann, Anne-Sophie; Alsayed, Moeen; Laktina, Sabine; Ucar, Sema Kalkan; Aksoylar, Serap; Lund, Troy; Orchard, Paul J.; Eminoglu, Fatma T.; Ileri, Talia; Kasapkara, cigdem S.; Yesilipek, Akif; Tuncel, Ali Tunc; Jurickova, Katarina; Magner, Martin
err分享
err收藏
Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency
errEUROPEAN JOURNAL OF PEDIATRICS
IF2.6
err2023-12-23
err5
PREAI
errYilmaz, Begum; Ceylan, Ahmet Cevdet; Gunduz, Mehmet; Uzun, Ozlem unal; Yavas, Aynur Kucukcongar; Gurbuz, Berrak Bilginer; Oncul, Ummuhan; Ceylan, Gulay Gulec; Kasapkara, cigdem Seher
err分享
err收藏
Does glutaric aciduria type 1 affect hearing function?
errMETABOLIC BRAIN DISEASE
IF3.5
err2022-04-30
err0
PREAI
errOzgedik, Dilek Demiral; Yilmaz, Suna Tokgoz; Gurbuz, Berrak Bilginer; Sivri, H. Serap; Sennaroglu, Gonca
err分享
err收藏

研究方向

暂时未获取到该数据
合作学者
合作期刊
P
Paul J. Orchard
H 指数: 61 · 论文数: 423
T
Troy C. Lund
H 指数: 48 · 论文数: 384
A
Allan M. Lund
H 指数: 46 · 论文数: 290
M
Mehmet Gündüz
H 指数: 31 · 论文数: 322
P
Pavel Ješina
H 指数: 29 · 论文数: 97
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