Zobrazeno 1 - 10
of 2 344
pro vyhledávání: '"biotinidase"'
Autor:
Kazan HH; Department of Medical Biology, Gulhane Faculty of Medicine, University of Health Sciences, Ankara, Turkey., Karaca M; Division of Pediatric Nutrition and Metabolism, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey., Akan G; DESAM Institute, Near East University, Mersin 10, Turkey., Özgen Ö; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey., Tuncel G; DESAM Institute, Near East University, Mersin 10, Turkey., Özketen AÇ; DESAM Institute, Near East University, Mersin 10, Turkey., Balcı MC; Division of Pediatric Nutrition and Metabolism, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey., Körbeyli HK; Division of Pediatric Nutrition and Metabolism, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey., Atalar F; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Rare Diseases, Child Health Institute, Istanbul University, Istanbul, Turkey. Electronic address: atalarf@istanbul.edu.tr., Gökçay GF; Division of Pediatric Nutrition and Metabolism, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Publikováno v:
Gene [Gene] 2024 Nov 30; Vol. 928, pp. 148782. Date of Electronic Publication: 2024 Jul 20.
Autor:
Çıkı K; Division of Child Nutrition and Metabolism, Department of Pediatrics, Van Research and Training Hospital, Van, Türkiye.; Division of Child Nutrition and Metabolism, Department of Pediatrics, School of Medicine, Hacettepe University, Ankara, Türkiye., Alavanda C; Department of Medical Genetics, Van Research and Training Hospital, Van, Türkiye., Ceylan Eİ; Department of Medical Genetics, Van Research and Training Hospital, Van, Türkiye.; Department of Medical Genetics, Dr. Abdurrahman Yurtaslan Ankara Oncology Education and Research Hospital, Ankara, Türkiye., Tanyalçın T; Tanyalcin Medical Laboratory, Selective Screening and Metabolism Unit, İzmir, Türkiye., Kılavuz S; Division of Child Nutrition and Metabolism, Department of Pediatrics, Van Research and Training Hospital, Van, Türkiye.; Division of Child Nutrition and Metabolism, Department of Pediatrics, School of Medicine, Marmara University, İstanbul, Türkiye.
Publikováno v:
The Turkish journal of pediatrics [Turk J Pediatr] 2024 Nov 16; Vol. 66 (5), pp. 608-617. Date of Electronic Publication: 2024 Nov 16.
Autor:
Abdi F; Department of Ophthalmology, Eye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran., Parvin S; School of Medicine, Iran University of Medical Sciences, Tehran, Iran., Zare Hosseinabadi V; Department of Ophthalmology, Eye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran., Kachuei M; Department of Pediatric Neurology, Firoozabadi Clinical Research Development Unit(FACRDU), Iran University of Medical Sciences, Tehran, Iran., Gordiz A; Department of Ophthalmology, Eye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran., Hemmati S; Department of Ophthalmology, Eye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran., Karimzadeh P; Pediatric Neurology Department, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Publikováno v:
Ophthalmic genetics [Ophthalmic Genet] 2024 Apr; Vol. 45 (2), pp. 120-125. Date of Electronic Publication: 2024 Jan 17.
Autor:
Yılmaz B; Department of Pediatrics, Ankara City Hospital, Ankara, Turkey., Ceylan AC; Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey.; Department of Medical Genetics, Ankara Yıldırım Beyazıt University, Ankara, Turkey., Gündüz M; Department of Pediatric Metabolic Diseases, Department of Pediatrics, Ankara City Hospital, Ankara, 06800, Turkey., Ünal Uzun Ö; Department of Pediatric Metabolic Diseases, Department of Pediatrics, Kocaeli University, Kocaeli, Turkey., Küçükcongar Yavaş A; Department of Pediatric Metabolic Diseases, Department of Pediatrics, Ankara City Hospital, Ankara, 06800, Turkey., Bilginer Gürbüz B; Department of Pediatric Metabolic Diseases, Department of Pediatrics, Ankara City Hospital, Ankara, 06800, Turkey., Öncül Ü; Department of Pediatric Metabolic Diseases, Department of Pediatrics, Ankara City Hospital, Ankara, 06800, Turkey., Güleç Ceylan G; Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey.; Department of Medical Genetics, Ankara Yıldırım Beyazıt University, Ankara, Turkey., Kasapkara ÇS; Department of Pediatric Metabolic Diseases, Department of Pediatrics, Ankara City Hospital, Ankara, 06800, Turkey. cskasapkara@gmail.com.; Department of Pediatric Metabolic Diseases, Department of Pediatrics, Ankara Yıldırım Beyazıt University, Ankara, Turkey. cskasapkara@gmail.com.
Publikováno v:
European journal of pediatrics [Eur J Pediatr] 2024 Mar; Vol. 183 (3), pp. 1341-1351. Date of Electronic Publication: 2023 Dec 23.
Autor:
Sharma R; Quest Diagnostics Nichols Institute, San Juan Capistrano, California, USA., Kucera CR; Quest Diagnostics Nichols Institute, San Juan Capistrano, California, USA., Nery CR; Quest Diagnostics Nichols Institute, San Juan Capistrano, California, USA., Lacbawan FL; Quest Diagnostics Nichols Institute, San Juan Capistrano, California, USA., Salazar D; Quest Diagnostics Nichols Institute, San Juan Capistrano, California, USA., Tanpaiboon P; Quest Diagnostics Nichols Institute, San Juan Capistrano, California, USA.
Publikováno v:
Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2024 Jan-Dec; Vol. 66 (1), pp. e15726.
Autor:
Moatter T; Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan., Ahmed S; Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan., Majid H; Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan., Jafri L; Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan., Bilal M; Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan., Najumuddin; Department of Biotechnology, Faculty of Engineering, Science and Technology, Hamdard University, Karachi, Pakistan., Faisal; Institute of Biochemistry, University of Sindh, Jamshoro, Pakistan., Khan AH; Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan.
Publikováno v:
The journal of gene medicine [J Gene Med] 2024 Jan; Vol. 26 (1), pp. e3597. Date of Electronic Publication: 2023 Sep 26.
Autor:
Sürücü Kara İ; Department of Pediatric Metabolism, Ankara University, Faculty of Medicine, Ankara, Türkiye., Köse E; Department of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara University Rare Diseases Application and Research Center, Ankara, Türkiye., Koç Yekedüz M; Department of Pediatric Metabolism, Ankara University, Faculty of Medicine, Ankara, Türkiye., Eminoğlu FT; Department of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara University Rare Diseases Application and Research Center, Ankara, Türkiye.
Publikováno v:
Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2023 Sep 20; Vol. 36 (11), pp. 1061-1071. Date of Electronic Publication: 2023 Sep 20 (Print Publication: 2023).
Autor:
Tankeu AT; Division of Genetic Medicine, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland., Van Winckel G; Genetic Medicine Division, Geneva University Hospitals, Geneva, Switzerland., Elmers J; Medical Library, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland., Jaccard E; Department of Medicine, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland., Superti-Furga A; Division of Genetic Medicine, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland., Wolf B; Division of Genetics, Birth Defects and Metabolism, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, United States of America; Department of Medical Genetics, Henry Ford Hospital, Detroit, MI, United States of America., Tran C; Division of Genetic Medicine, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland. Electronic address: christel.tran@chuv.ch.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2023 Apr; Vol. 138 (4), pp. 107560. Date of Electronic Publication: 2023 Mar 24.
Autor:
Liu S; Pediatric Endocrinology and Inherited Metabolic Department, Guangdong Women and Children Hospital, Guangzhou 511442, China., Zhang Y; Pediatric Endocrinology and Inherited Metabolic Department, Guangdong Women and Children Hospital, Guangzhou 511442, China., Deng Z; Pediatric Endocrinology and Inherited Metabolic Department, Guangdong Women and Children Hospital, Guangzhou 511442, China., He H; Pediatric Endocrinology and Inherited Metabolic Department, Guangdong Women and Children Hospital, Guangzhou 511442, China., Zheng X; Department of Clinical Laboratory, Guangdong Women and Children Hospital, Guangzhou 511442, China., Hong Q; Department of Radiology, Guangdong Women and Children Hospital, Guangzhou 511442, China., Luo X; Pediatric Endocrinology and Inherited Metabolic Department, Guangdong Women and Children Hospital, Guangzhou 511442, China.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2023 Jun 16; Vol. 24 (12). Date of Electronic Publication: 2023 Jun 16.
Autor:
Chetan C; Depatment of Neonatology, Himalayan Institute of Medical Sciences, Dehradun, Uttarakhand, India., Singh B; Department of Paediatrics, Kalyan Singh Government Medical College, Bulandshahr, Uttar Pradesh, India., Patra S; Depatment of Neonatology, Himalayan Institute of Medical Sciences, Dehradun, Uttarakhand, India., Gupta G; Department of Pediatrics, Graphic Era Institute of Medical Sciences, Dehradun, Uttarakhand, India dscnnf@gmail.com.
Publikováno v:
BMJ case reports [BMJ Case Rep] 2024 Dec 05; Vol. 17 (12). Date of Electronic Publication: 2024 Dec 05.