Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Biotinidase Deficiency and BTD[original query] |
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High frequencies of biotinidase (BTD) gene mutations in the Hungarian population. Journal of inherited metabolic disease 2010 Dec 33 Suppl 3 S289-92. Milánkovics Ilona, Németh Krisztina, Somogyi Csilla, Schuler Agnes, Fekete Györ |
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. Molecular genetics and metabolism 2012 Aug 106 (4): 485-7. Cowan Tina M, Kazerouni Niloufar Neely, Dharajiya Nilesh, Lorey Fred, Roberson Marie, Hodgkinson Christina, Schrijver Ir |
Single center experience of biotinidase deficiency: 259 patients and six novel mutations. Journal of pediatric endocrinology & metabolism : JPEM 2018 7 31 (8): 917-926. Canda Ebru, Yazici Havva, Er Esra, Kose Melis, Basol Gunes, Onay Huseyin, Ucar Sema Kalkan, Habif Sara, Ozkinay Ferda, Coker Mahm |
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population. Molecular genetics and metabolism reports 2020 4 22 100548. Mardhiah M, Azize Nor Azimah Abdul, Yakob Yusnita, Affandi O, Hock Ngu Lock, Rowani M R, Habib Anasufi |
Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency. Journal of personalized medicine 2020 1 10 (1): . Al-Eitan Laith N, Alqa'qa' Kifah, Amayreh Wajdi, Khasawneh Rame, Aljamal Hanan, Al-Abed Mamoon, Haddad Yazan, Rawashdeh Tamara, Jaradat Zaher, Haddad Haz |
Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient. Molecular genetics & genomic medicine 2021 1 9 (2): e1591. Geng Jia, Sun Yi, Zhao Yi, Xiong Wenyu, Zhong Mingjun, Zhang Yajuan, Zhao Qiuling, Bao Zhongwei, Cheng Jing, Lu Yu, Yuan Huij |
Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience. Journal of pediatric endocrinology & metabolism : JPEM 2023 4 . Sahin Erdol, Tugba Akbey Kocak, Huseyin Bilg |
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population. Genes 2023 10 14 (10): . Aziz Suat Gunsel, Mahmut Cerkez Ergoren, Hatice Kemal, Haniyeh Rahbar Kafshboran, Levent Cerit, Ayla Turgay, Hamza Duy |
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- Page last updated:Apr 29, 2024
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