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Kasapkara, Çiğdem Seher
74  results:
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1

Clinical, biochemical, and molecular insights into Cerebrot..:

Zubarioglu, Tanyel ; Kıykım, Ertuğrul ; Köse, Engin...
Molecular Genetics and Metabolism.  142 (2024)  2 - p. 108493 , 2024
Link: https://doi.org/10.1016/..
 
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2

Long-term clinical evaluation of patients with alpha-mannos..:

Köse, Engin ; Kasapkara, Çiğdem Seher ; İnci, Aslı...
European Journal of Medical Genetics.  68 (2024)  - p. 104927 , 2024
Link: https://doi.org/10.1016/..
 
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3

Mitochondrial phosphate‐carrier deficiency mimicking infant..:

Küçükcongar Yavaş, Aynur ; Basan, Hacer ; Dinçer, Serpil..
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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4

Out-of-pocket health expenditures in patients living with ı..:

Gündüz, Mehmet ; Yüksel Güdek, Yasemin ; Kasapkara, Çiğdem Seher
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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5

Prevalence of DDC genotypes in patients with aromatic L-ami..:

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Alfadhel, Majid...
Molecular Genetics and Metabolism.  139 (2023)  3 - p. 107624 , 2023
Link: https://doi.org/10.1016/..
 
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6

Multiplexed cell-based diagnostic devices for detection of ..:

Köse, Sıla ; Ahan, Recep Erdem ; Köksaldı, İlkay Çisil...
Biosensors and Bioelectronics.  223 (2023)  - p. 115035 , 2023
Link: https://doi.org/10.1016/..
 
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7

Corrigendum to: Prevalence of DDC genotypes in patients wit..:

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Alfadhel, Majid...
Molecular Genetics and Metabolism.  139 (2023)  4 - p. 107647 , 2023
Link: https://doi.org/10.1016/..
 
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8

Evaluation of clinical, laboratory, and molecular genetic f..:

Yılmaz, Begüm ; Ceylan, Ahmet Cevdet ; Gündüz, Mehmet...
European Journal of Pediatrics.  , 2023
Link: https://doi.org/10.1007/..
 
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9

Can therapeutic plasma exchange be life-saving in life-thre..:

Uyar, Emel ; Gurkas, Esra ; Aksu, Aysel Unlusoy...
Transfusion and Apheresis Science.  61 (2022)  4 - p. 103417 , 2022
Link: https://doi.org/10.1016/..
 
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10

Three-Country Snapshot of Ornithine Transcarbamylase Defici..:

Seker Yilmaz, Berna ; Baruteau, Julien ; Arslan, Nur...
Life.  12 (2022)  11 - p. 1721 , 2022
Link: https://doi.org/10.3390/..
 
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11

Homozygous SLC20A2 mutations cause congenital CMV infection..:

Ceylan, Ahmet Cevdet ; Kireker Köylü, Oya ; Özyürek, Hamit...
Acta Neurologica Belgica.  123 (2022)  5 - p. 1757-1761 , 2022
Link: https://doi.org/10.1007/..
 
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12

Genotypic and phenotypic features in Turkish patients with ..:

Bayrak, Harun ; Yıldız, Yılmaz ; Olgaç, Asburçe...
Metabolic Brain Disease.  36 (2021)  6 - p. 1213-1222 , 2021
Link: https://doi.org/10.1007/..
 
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13

Congenital defects of glycosylation: Novel presentations wi..:

İnci, Aslı ; Cengiz, Başak ; Biberoğlu, Gürsel...
American Journal of Medical Genetics Part A.  185 (2021)  9 - p. 2739-2747 , 2021
Link: https://doi.org/10.1002/..
 
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14

Beneficial Effects of Modified Atkins Diet in Glycogen Stor..:

Olgac, Asburce ; Inci, Asli ; Okur, Ilyas...
Annals of Nutrition & Metabolism.  76 (2020)  4 - p. 233-241 , 2020
Link: https://www.jstor.org/st..
 
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15

Genotypes and estimated prevalence of phosphomannomutase 2 ..:

Yıldız, Yılmaz ; Arslan, Mutluay ; Çelik, Gökalp...
American Journal of Medical Genetics Part A.  182 (2020)  4 - p. 705-712 , 2020
Link: https://doi.org/10.1002/..
 
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