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Research 10 of 22

1. Biotinidase Deficiency: Prevalence, Impact And Management Strategies. PubMed · 2020 · 89 citations
2. Biotinidase deficiency characterized by skin and hair findings Clinics in Dermatology · 2020 · 10 citations
3. Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population Molecular genetics and metabolism reports · 2019 · 8 citations
4. Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient Molecular genetics & genomic medicine · 2021 · 3 citations
5. Biotin and biotinidase deficiency Expert Review of Endocrinology & Metabolism · 2008 · 166 citations
6. Genetic mapping of hair loss through the APCDD1 gene pathway: A new perspective Demiroglu Science University Florence Nightingale Journal of Medicine · 2024
7. Sp6 downregulation of follistatin gene expression in ameloblasts Journal of medical investigation · 2008 · 28 citations
8. Epidemiologic Study of Gene Distribution in Romanian and Brazilian Patients with Non-Cicatricial Alopecia Medicina-lithuania · 2023
9. Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters European Journal of Human Genetics · 2023 · 1 citations
10. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) Orphanet Journal of Rare Diseases · 2022 · 8 citations

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