Orphanet Journal of Rare Diseases

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

RESEARCH

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

María Barreda-Sánchez, Juan Buendía-Martínez, Guillermo Glover-López, Carmen Carazo-Díaz, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Lidya Rodriguez-Peña, Ana Teresa Serrano-Antón, Remedios Gil-Ferrer, Maria del Carmen Martínez-Romero, Pablo Carbonell-Meseguer and Encarna Guillén-Navarro

Orphanet Journal of Rare Diseases 2019, 14:59 | Published on: 26 February 2019

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REVIEW

Congenital myasthenic syndromes

Josef Finsterer

Orphanet Journal of Rare Diseases 2019, 14:57 | Published on: 26 February 2019

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REVIEW

FGF23 and its role in X-linked hypophosphatemia-related morbidity

Signe Sparre Beck-Nielsen, Zulf Mughal, Dieter Haffner, Ola Nilsson, Elena Levtchenko, Gema Ariceta, Carmen de Lucas Collantes, Dirk Schnabel, Ravi Jandhyala and Outi Mäkitie

Orphanet Journal of Rare Diseases 2019, 14:58 | Published on: 26 February 2019

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RESEARCH

Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia

Mirjam Korner, Sonja Kälin, Antoinette Zweifel-Zehnder, Niklaus Fankhauser, Jean-Marc Nuoffer and Matthias Gautschi

Orphanet Journal of Rare Diseases 2019, 14:56 | Published on: 26 February 2019

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