Browse by UCL people
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Number of items: 21.
Article
Ahmad, Mushtaha;
ElRasoul, Alaa;
Sedayou, Raneem;
Tamboosi, Mohammed;
Mahroos, Hanan;
Alrashed, Shaimaa;
Tunkar, Mariam;
... Alshaikh, Nahla M; + view all
(2024)
Safety and effectiveness of ataluren in patients with Duchenne muscular dystrophy: single-center experience from Saudi Arabia.
Journal of International Medical Research
, 52
(12)
10.1177/03000605241305252.
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Baruteau, J;
Cunningham, SC;
Yilmaz, BS;
Perocheau, DP;
Eaglestone, S;
Burke, D;
Thrasher, AJ;
... Gissen, P; + view all
(2021)
Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys.
Molecular Therapy - Methods & Clinical Development
, 23
pp. 135-146.
10.1016/j.omtm.2021.09.005.
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Baruteau, J;
Gurung, S;
Perocheau, D;
Counsell, J;
(2020)
Gene therapy for inherited metabolic diseases.
Journal of Mother and Child
, 24
(2)
10.34763/jmotherandchild.20202402si.2004.000009.
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Bulut, Fatma Derya;
Kor, Deniz;
Kılavuz, Sebile;
Şeker Yılmaz, Berna;
Kaplan, İrem;
Ekinci, Faruk;
Burgaç, Ezgi;
... Önenli Mungan, Neslihan; + view all
(2023)
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis.
European Journal of Medical Genetics
, 66
(6)
, Article 104764. 10.1016/j.ejmg.2023.104764.
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Hitay İnan, A;
Şeker Yılmaz, B;
Bulut, FD;
Kılavuz, S;
Kor, D;
Karakaş, M;
Önenli Mungan, HN;
(2021)
Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign.
The Journal of Pediatric Research
, 8
(2)
pp. 206-208.
10.4274/jpr.galenos.2020.82621.
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Ibrahim, Majitha Seyed;
Gold, Jessica I;
Woodall, Alison;
Yilmaz, Berna Seker;
Gissen, Paul;
Stepien, Karolina M;
(2023)
Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.
Children
, 10
(8)
, Article 1368. 10.3390/children10081368.
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Kılavuz, S;
Bulut, D;
Kor, D;
Şeker-Yılmaz, B;
Özcan, N;
Incecik, F;
Onan, B;
... Önenli-Mungan, N; + view all
(2021)
The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS.
Neuropediatrics
, 52
(5)
pp. 358-369.
10.1055/s-0040-1722691.
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Kılıç Yıldırım, G;
Yarar, C;
Şeker Yılmaz, B;
Ceylaner, S;
(2022)
Niemann–Pick type C disease with a novel intronic mutation: three Turkish cases from the same family.
Journal of Pediatric Endocrinology and Metabolism
, 35
(4)
pp. 535-541.
10.1515/jpem-2021-0052.
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Kor, Deniz;
Bulut, Fatma Derya;
Kılavuz, Sebile;
Şeker Yılmaz, Berna;
Köşeci, Burcu;
Kara, Esra;
Kaya, Ömer;
... Önenli Mungan, Neslihan; + view all
(2022)
Evaluation of bone health in patients with mucopolysaccharidosis.
Journal of Bone and Mineral Metabolism
, 40
(3)
pp. 498-507.
10.1007/s00774-021-01304-4.
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Kör, D;
Şeker-Yılmaz, B;
Bulut, FD;
Kılavuz, S;
Öktem, M;
Ceylaner, S;
Yıldızdaş, D;
(2019)
Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.
The Turkish Journal of Pediatrics
, 61
(3)
pp. 330-336.
10.24953/turkjped.2019.03.003.
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Kör, D;
Yılmaz, BŞ;
Bulut, FD;
Ceylaner, S;
Mungan, NÖ;
(2017)
Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose.
Journal of Pediatric Endocrinology and Metabolism
, 30
(7)
pp. 713-718.
10.1515/jpem-2016-0461.
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Seker Yilmaz, B;
Davison, J;
Jones, SA;
Baruteau, J;
(2021)
Novel therapies for mucopolysaccharidosis type III.
Journal of Inherited Metabolic Disease
, 44
(1)
pp. 129-147.
10.1002/jimd.12316.
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Seker Yilmaz, Berna;
Baruteau, Julien;
Arslan, Nur;
Aydin, Halil Ibrahim;
Barth, Magalie;
Bozaci, Ayse Ergul;
Brassier, Anais;
... Gissen, Paul; + view all
(2022)
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Life
, 12
(11)
, Article 1721. 10.3390/life12111721.
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Seker Yilmaz, Berna;
Baruteau, Julien;
Chakrapani, Anupam;
Champion, Michael;
Chronopoulou, Efstathia;
Claridge, Lee C;
Daly, Anne;
... Gissen, Paul; + view all
(2023)
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.
Molecular Genetics and Metabolism Reports
, 37
, Article 101020. 10.1016/j.ymgmr.2023.101020.
(In press).
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Seker Yilmaz, Berna;
Gissen, Paul;
(2023)
AAV-mediated gene therapy for rare metabolic disorders: turning a promise into a reality.
The Biochemist
, 45
(4)
pp. 2-5.
10.1042/bio_2023_128.
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Seker Yilmaz, Berna;
Gissen, Paul;
(2023)
Targeting the liver to treat the eye.
EMBO Molecular Medicine
, Article e17285. 10.15252/emmm.202217285.
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Seker Yilmaz, Berna;
Gissen, Paul;
(2023)
Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency.
Biomedicines
, 11
(8)
, Article 2227. 10.3390/biomedicines11082227.
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Seker Yilmaz, B;
Baruteau, J;
Rahim, AA;
Gissen, P;
(2020)
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
International Journal of Molecular Sciences
, 21
(14)
, Article 5059. 10.3390/ijms21145059.
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Şeker Yilmaz, B;
Kör, D;
Bulut, FD;
Kilavuz, S;
Ceylaner, S;
Önenli Mungan, HN;
(2021)
Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia.
Turkish Journal of Medical Sciences
10.3906/sag-2001-72.
(In press).
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Seker Yilmaz, B;
Mungan, NO;
Kor, D;
Bulut, D;
Seydaoglu, G;
Öktem, M;
Ceylaner, S;
(2018)
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.
Journal of Pediatric Endocrinology and Metabolism
, 31
(3)
pp. 339-343.
10.1515/jpem-2017-0406.
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Yılmaz, BŞ;
Ceylaner, S;
Mungan, NÖ;
(2021)
Brown vialetto van laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders.
The Turkish Journal of Pediatrics
, 63
(2)
pp. 314-318.
10.24953/turkjped.2021.02.016.
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