Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases RESEARCH Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review Fang Peng, Yi-Min Sun, Chao Quan, Jian Wang and Jian-Jun Wu Orphanet Journal of Rare Diseases 2019, 14:83 | Published on: 25 April 2019 Full Text | PDF REVIEW Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó and Tamás Zelei Orphanet Journal of Rare Diseases 2019, 14:84 | Published on: 25 April 2019 Full Text | PDF RESEARCH Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review Shelagh M. Szabo, Ioannis C. Tomazos, Anna Petryk, Lauren C. Powell, Bonnie M. K. Donato, Yuri A. Zarate, Anatoly Tiulpakov and Gabriel Ángel Martos-Moreno Orphanet Journal of Rare Diseases 2019, 14:85 | Published on: 25 April 2019 Full Text | PDF

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