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Gokcay, Gülden
79  results:
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1

Variable clinical phenotypes of alpha‐methylacyl‐CoA racema..:

Selamioğlu, Arzu ; Balcı, Mehmet Cihan ; Karaca, Meryem...
JIMD Reports.  , 2024
Link: https://doi.org/10.1002/..
 
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2

Levodopa‐refractory hyperprolactinemia and pituitary findin..:

Yıldız, Yılmaz ; Kuseyri Hübschmann, Oya ; Akgöz Karaosmanoğlu, Ayça...
Journal of Inherited Metabolic Disease.  47 (2023)  3 - p. 431-446 , 2023
Link: https://doi.org/10.1002/..
 
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3

Novel GALT variations and genetic spectrum in Turkish popul..:

Kalay, Irem ; Gulec, Cagri ; Balcı, Mehmet Cihan...
Annals of Human Genetics.  87 (2023)  6 - p. 285-294 , 2023
Link: https://doi.org/10.1111/..
 
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4

Expert-opinion-based guidance for the care of children with..:

Akgun, Abdurrahman ; Gokcay, Gulden ; Mungan, Neslihan Onenli...
Frontiers in Public Health.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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5

ELIKIDS: Baseline characteristics from the eliglustat subst..:

Giraldo, Pilar ; Gokcay, Gulden ; Batsu, Isabela...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107113 , 2023
Link: https://doi.org/10.1016/..
 
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6

Reanalysis of exome sequencing data reveals a treatable neu..:

Susgun, Seda ; Kesim, Yesim ; Khalilov, Dovlat...
Neurological Sciences.  44 (2023)  7 - p. 2527-2540 , 2023
Link: https://doi.org/10.1007/..
 
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7

Subcutaneous nodules as a clinical biomarker of Farber dise..:

Mitchell, John ; Harmatz, Paul ; Selim, Laila...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S84 , 2022
Link: https://doi.org/10.1016/..
 
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8

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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9

Farber disease clinical impact: Patient reported outcomes a..:

Mitchell, John ; Harmatz, Paul ; Selim, Laila...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S83-S84 , 2022
Link: https://doi.org/10.1016/..
 
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10

Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings w..:

Yuruk Yildirim, Zeynep ; Toksoy, Guven ; Uyguner, Oya...
European Journal of Medical Genetics.  63 (2020)  1 - p. 103621 , 2020
Link: https://doi.org/10.1016/..
 
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11

Farber disease (acid ceramidase deficiency) natural history..:

Mitchell, John ; Harmatz, Paul ; Grant, Christina...
Molecular Genetics and Metabolism.  129 (2020)  2 - p. S111 , 2020
Link: https://doi.org/10.1016/..
 
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12

ASAH1pathogenic variants associated with acid ceramidase de..:

Elsea, Sarah H. ; Solyom, Alexander ; Martin, Kirt...
Human Mutation.  41 (2020)  9 - p. 1469-1487 , 2020
Link: https://doi.org/10.1002/..
 
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13

Farber disease (acid ceramidase deficiency): Data from an o..:

Solyom, Alexander ; Ferreira, Carlos ; Mitchell, John...
Molecular Genetics and Metabolism.  126 (2019)  2 - p. S136-S137 , 2019
Link: https://doi.org/10.1016/..
 
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14

Management guidelines for infantile onset lysosomal acid li..:

Jones, Simon A. ; AlSayed, Moeenaldeen ; Broomfield, Alexander A....
Molecular Genetics and Metabolism.  123 (2018)  2 - p. S72-S73 , 2018
Link: https://doi.org/10.1016/..
 
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15

Experience of the nutritional management of infantile onset..:

Ghosh, Arunabha ; Aleck, Kirk ; Arvonen, Miika...
Molecular Genetics and Metabolism.  123 (2018)  2 - p. S51 , 2018
Link: https://doi.org/10.1016/..
 
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