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Author/Creator Schiff, Manuel

41. Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Issue 6 (20th December 2017)

Authors:
Maas, Roeltje R.; Iwanicka‐Pronicka, Katarzyna; Kalkan Ucar, Sema; Alhaddad, Bader; AlSayed, Moeenaldeen; Al‐Owain, Mohammed A.; Al‐Zaidan, Hamad I.; Balasubramaniam, Shanti; Barić, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; F...
Journal:
Annals of neurology
Issue:
Volume 82:Issue 6(2017)
Page Start:
1004
Record Type:
Journal Article
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43. Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study. Issue 1 (6th March 2021)

Authors:
de Lonlay, Pascale; Posset, Roland; Mütze, Ulrike; Mention, Karine; Lamireau, Delphine; Schiff, Manuel; Servais, Aude; Arnoux, Jean Baptiste; Brassier, Anaïs; Dao, Myriam; Douillard, Claire; Ottolenghi, Chris; Pontoizeau, Clément; Miotto, Federica; Le Mouhaër, Jeannie
Journal:
JIMD reports
Issue:
Volume 59:Issue 1(2021)
Page Start:
110
Record Type:
Journal Article
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44. SLC13A3 variants cause acute reversible leukoencephalopathy and α‐ketoglutarate accumulation. Issue 3 (29th January 2019)

Authors:
Dewulf, Joseph P.; Wiame, Elsa; Dorboz, Imen; Elmaleh‐Bergès, Monique; Imbard, Apolline; Dumitriu, Dana; Rak, Malgorzata; Bourillon, Agnès; Helaers, Raphaël; Malla, Alisha; Renaldo, Florence; Boespflug‐Tanguy, Odile; Vincent, Marie‐Françoise; Benoist, Jean‐François; Wevers, Ron A.; Schlessinger, ...
Journal:
Annals of neurology
Issue:
Volume 85:Issue 3(2019)
Page Start:
385
Record Type:
Journal Article
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45. Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia. Issue 5 (23rd June 2022)

Authors:
Marelli, Cecilia; Fouilhoux, Alain; Benoist, Jean‐Francois; De Lonlay, Pascale; Guffon‐Fouilhoux, Nathalie; Brassier, Anais; Cano, Aline; Chabrol, Brigitte; Pennisi, Alessandra; Schiff, Manuel; Acquaviva, Cecile; Murphy, Elaine; Servais, Aude; Lachmann, Robin
Other Names:
Bhattacharya Kaustuv guestEditor.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 5(2022)
Page Start:
937
Record Type:
Journal Article
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