Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

β-ureidopropionase (βUP) deficiency is an autosomal recessive disease characterized by N-carbamyl-β-amino aciduria. To date, only 16 genetically confirmed patients with βUP deficiency have been reported. Here, we report on the clinical, biochemical and molecular findings of 13 Japanese βUP deficient...

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Detalles Bibliográficos
Autores principales: Nakajima, Yoko, Meijer, Judith, Dobritzsch, Doreen, Ito, Tetsuya, Meinsma, Rutger, Abeling, Nico G. G. M., Roelofsen, Jeroen, Zoetekouw, Lida, Watanabe, Yoriko, Tashiro, Kyoko, Lee, Tomoko, Takeshima, Yasuhiro, Mitsubuchi, Hiroshi, Yoneyama, Akira, Ohta, Kazuhide, Eto, Kaoru, Saito, Kayoko, Kuhara, Tomiko, van Kuilenburg, André B. P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4158181/
https://www.ncbi.nlm.nih.gov/pubmed/24526388
http://dx.doi.org/10.1007/s10545-014-9682-y

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