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论文共 114 篇作者统计合作学者相似作者

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A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency

Hacer Basan,Emine Azak,Ibrahim Ilker Cetin,Esra Kilic,Berrak Bilginer Gurbuz, Sumeyra Zeynep Ozbey,Cigdem Seher Kasapkara

MOLECULAR SYNDROMOLOGY（2024）

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Mitochondrial DNA Depletion Syndromes Gene Panel Versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies

Neslihan Dogulu,Engin Kose,Serdar Ceylaner,Cigdem Seher Kasapkara,Ayse Ergul Bozaci,Ummuhan Oncul,Fatma Tuba Eminoglu

Molecular syndromologyno. 6 (2024): 450-463

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Long-term Clinical Evaluation of Patients with Alpha-Mannosidosis – A Multicenter Study

Engin Kose,Cigdem Seher Kasapkara,Asli Inci,Yilmaz Yildiz,Ilknur Surucu Kara,Ayca Burcu Kahraman,Leyla Tumer,Ali Dursun,Fatma Tuba Eminog

European Journal of Medical Genetics (2024): 104927-104927

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Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy

Cigdem Seher Kasapkara,Burcu Civelek Urey,Berrak Bilginer Gurbuz,Aynur Kucukcongar Yavas, Avni Merter Keceli,Ummuhan Oncul,Mehmet Gunduz,Gursel Biberoglu,Aysegul Nese Citak Kurt,Esra Gurkas,Esra Kilic,Gulay Gulec Ceylan,Namik Yasar Ozbek

MOLECULAR SYNDROMOLOGY (2024)

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Hereditary Spastic Paraplegia Type 35 in a Turkish Girl with Fatty Acid Hydroxylase-Associated Neurodegeneration

Aysenur Engin Erdal,Burak Yurek,Oya Kireker Koylu,Ahmet Cevdet Ceylan,Ayseguel Nese Citak Kurt,Cigdem Seher Kasapkara

Journal of Pediatric Endocrinology and Metabolism（2024）

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Clinical, Biochemical, and Molecular Insights into Cerebrotendinous Xanthomatosis: A Nationwide Study of 100 Turkish Individuals

Tanyel Zubarioglu,Ertugrul Kiykim,Engin Kose,Fatma Tuba Eminoglu,Pelin Teke Kisa,Mehmet Cihan Balci,Isil Ozer,Asli Inci, Kubra Cilesiz,Ebru Canda,Havva Yazici,Burcu Ozturk-Hismi,Fatma Derya Bulut,Sevil Dorum,Abdurrahman Akgun, Guel Yalcin-Cakmakli,Gonca Kilic-Yildirim,Erdogan Soyucen,Aylin Akcali, Dilek Gunes,Asli Durmus,Aysegul Gunduz,cigdem Seher Kasapkara,Emine Goksoy,Halil Tuna Akar,Melike Ersoy,Sahin Erdol,Yilmaz Yildiz, Hasmet Ayhan Hanagasi,Nur Arslan,Cigdem Aktuglu-Zeybek

Molecular Genetics and Metabolismno. 2 (2024): 108493-108493

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Abbreviation of Desensitization Protocol for Pediatric Patients with Lysosomal Storage Diseases Receiving Enzyme Replacement Therapy

Gokhan Yorusun,Ozge Yilmaz Topal,Zeynep Sengul Emeksiz,Aynur Kucukcongar Yavas,Cigdem Seher Kasapkara,Emine Dibek Misirlioglu

International archives of allergy and immunology（2024）

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Is 5-Oxoprolinase Deficiency More Than Just a Benign Condition

Cigdem Seher Kasapkara,Oya Kireker Koylu,Aysenur Engin Erdal,Burak Yurek, Nesrin Ceylan,Serdar Ceylaner

MOLECULAR SYNDROMOLOGYno. 4 (2024): 303-310

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Mitochondrial Phosphate-Carrier Deficiency Mimicking Infantile-Onset Pompe Disease

Aynur Kucukcongar Yavas, Hacer Basan, Serpil Dincer,Berrak Bilginer Gurbuz,cigdem Seher Kasapkara

American Journal of Medical Genetics Part A (2024)

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Evaluation of Clinical, Laboratory, and Molecular Genetic Features of Patients with Biotinidase Deficiency

Begüm Yılmaz,Ahmet Cevdet Ceylan,Mehmet Gündüz,Özlem Ünal Uzun,Aynur Küçükcongar Yavaş,Berrak Bilginer Gürbüz,Ümmühan Öncül,Gülay Güleç Ceylan,Çiğdem Seher Kasapkara

EUROPEAN JOURNAL OF PEDIATRICSno. 3 (2024): 1341-1351

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