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Gokcay, Gülden
42
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
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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3
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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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
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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6
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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7
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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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
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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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
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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13
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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14
Determinants of Plasma Docosahexaenoic Acid Levels and Thei..:
Demmelmair, Hans
;
MacDonald, Anita
;
Kotzaeridou, Urania
...
Nutrients. 10 (2018) 12 - p. 1944 , 2018
Link:
https://doi.org/10.3390/..
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15
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/..
1-15