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Prevalence (%) of clinical parameters based on data from 2 references describing 88 individuals Add new symptom/sign to this disease
List of symptoms
List of references: Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. Yin-Hsiu Chien, Jose E Abdenur, Federico Baronio, Allison Anne Bannick, Fernando Corrales, Maria Couce, Markus G Donner, Can Ficicioglu, Cynthia Freehauf, Deborah Frithiof, Garrett Gotway, Koichi Hirabayashi, Floris Hofstede, George Hoganson, Wuh-Liang Hwu, Philip James, Sook Kim, Stanley H Korman, Robin Lachmann, Harvey Levy, Martin Lindner, Lilia Lykopoulou, Ertan Mayatepek, Ania Muntau, Yoshiyuki Okano, Kimiyo Raymond, Estela Rubio-Gozalbo, Sabine Scholl-Bürgi, Andreas Schulze, Rani Singh, Sally Stabler, Mary Stuy, Janet Thomas, Conrad Wagner, William G Wilson, Saskia Wortmann, Shigenori Yamamoto, Maryland Pao, Henk J Blom, Orphanet journal of rare diseases - Aug 2015 Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan. Masayoshi Nagao, Toju Tanaka, Mahoko Furujo, Molecular genetics and metabolism - Dec 2013 |