ProfileOfResearchers

TITLE: International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up Full Text
AUTHORS: Ruqaiah Altassan; Romain Peanne; Jaak Jaeken; Rita Barone; Muad Bidet; Delphine Borgel; Sandra Brasil; David Cassiman; Anna Cechova; David Coman; Javier Corral; Joana Correia; Maria Eugenia de la Morena Barrio; Pascale de Lonlay; Vanessa Dos Reis; Carlos R Ferreira; Agata Fiumara; Rita Francisco; Hudson Freeze; Simone Funke; Thatjana Gardeitchik; Matthijs Gert; Muriel Girad; Marisa Giros; Stephanie Gruenewald; Trinidad Hernandez Caselles; Tomas Honzik; Marlen Hutter; Donna Krasnewich; Christina Lam; Joy Lee; Dirk Lefeber; Dorinda Marques de Silva; Antonio F Martinez; Hossein Moravej; Katrin Ounap; Carlota Pascoal; Tiffany Pascreau; Marc Patterson; Dulce Quelhas; Kimiyo Raymond; Peymaneh Sarkhail; Manuel Schiff; Malgorzata Seroczynska; Mercedes Serrano; Nathalie Seta; Jolanta Sykut Cegielska; Christian Thiel; Federic Tort; Mari Anne Vals; Paula Videira; Peter Witters; Renate Zeevaert; Eva Morava; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 1

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Scopus

WOS

TITLE: Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency Full Text
AUTHORS: Martina Huemer; Daria Diodato; Bernd Schwahn; Manuel Schiff; Anabela Bandeira; Jean Francois Benoist; Alberto Burlina; Roberto Cerone; Maria L Couce; Angeles Garcia Cazorla; Giancarlo la Marca; Elisabetta Pasquini; Laura Vilarinho; James D Weisfeld Adams; Viktor Kozich; Henk Blom; Matthias R Baumgartner; Carlo Dionisi Vici;
PUBLISHED: 2017, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 40, ISSUE: 1

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WOS

TITLE: Cause of death in patients with attenuated acid sphingomyelinase deficiency: Comprehensive literature review and report of new cases Full Text
AUTHORS: Jackie Imrie; Karl Eugen Mengel; David Cassiman; Paulina Mabe; Moeen Al Sayed; Bruno Bembi; Roberto Giugliani; Seymour Packman; Manuel Schiff; Tsutomu Takahashi; Hadhami Ben Turkia; Gerald F Cox;
PUBLISHED: 2016, SOURCE: 12th Annual WORLD Symposium in MOLECULAR GENETICS AND METABOLISM, VOLUME: 117, ISSUE: 2

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WOS

TITLE: Impact of age at onset and newborn screening on outcome in organic acidurias Full Text
AUTHORS: Jana Heringer; Vassili Valayannopoulos; Allan M Lund; Frits A Wijburg; Peter Freisinger; Ivo Baric; Matthias R Baumgartner; Peter Burgard; Alberto B Burlina; Kimberly A Chapman; Elisenda C I Cortes I Saladelafont; Daniela Karall; Chris Muehlhausen; Victoria Riches; Manuel Schiff; Jolanta Sykut Cegielska; John H Walter; Jiri Zeman; Brigitte Chabrol; Stefan Koelker;
PUBLISHED: 2016, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 39, ISSUE: 3

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WOS

TITLE: High homocysteine induces betaine depletion
AUTHORS: Apolline Imbard; Jean Francois Benoist; Ruben Esse; Sapna Gupta; Sophie Lebon; An S de Vriese; Helene Ogier de Baulny; Warren Kruger; Manuel Schiff; Henk J Blom;
PUBLISHED: 2015, SOURCE: BIOSCIENCE REPORTS, VOLUME: 35, ISSUE: 4

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Scopus

WOS

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