Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases

RESEARCH

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

Sunita Bijarnia-Mahay, Johannes Häberle, Anil B. Jalan, Ratna Dua Puri, Sudha Kohli, Ketki Kudalkar, Véronique Rüfenacht, Deepti Gupta, Deepshikha Maurya, Jyotsna Verma, Yosuke Shigematsu, Seiji Yamaguchi, Renu Saxena and Ishwar C. Verma

Orphanet Journal of Rare Diseases 2018, 13:174 | Published on: 1 October 2018

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RESEARCH

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloe Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois…

Orphanet Journal of Rare Diseases 2018, 13:175 | Published on: 1 October 2018

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