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Author/Creator Schiff, Manuel

1. Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. Issue 5 (22nd April 2016)

Authors:
Posset, Roland; Garcia‐Cazorla, Angeles; Valayannopoulos, Vassili; Teles, Elisa Leão; Dionisi‐Vici, Carlo; Brassier, Anaïs; Burlina, Alberto B.; Burgard, Peter; Cortès‐Saladelafont, Elisenda; Dobbelaere, Dries; Couce, Maria L.; Sykut‐Cegielska, Jolanta; Häberle, Johannes; Lund, Allan M.; Chakrapa...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 5(2016)
Page Start:
661
Record Type:
Journal Article
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2. An unfortunate challenge: Ketogenic diet for the treatment of Lennox–Gastaut syndrome in tyrosinemia type 1. (July 2016)

Authors:
De Lucia, Silvana; Pichard, Samia; Ilea, Adina; Greneche, Marie-Odile; François, Laurent; Delanoë, Catherine; Schiff, Manuel; Auvin, Stéphane
Journal:
European journal of paediatric neurology
Issue:
Volume 20:Number 4(2016:Jul.)
Page Start:
674
Record Type:
Journal Article
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4. Bi-allelic mutations in DNAJC12 cause hyperphenylalaninemia, neurotransmitter deficiencies, dystonia and intellectual disability. (June 2017)

Authors:
Schiff, Manuel; Haack, Tobias; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K.; Martinez, Aurora; Benoist, Jean-François; Heimer, Gali; Malicdan, May Christine V.; Ben-Zeev, Bruria; Blau, Nenad; Hoffmann, Geor...
Journal:
European journal of paediatric neurology
Issue:
Volume 21(2017)Supplement 1
Page Start:
e175
Record Type:
Journal Article
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5. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. Issue 1 (30th May 2015)

Authors:
Huemer, Martina; Mulder‐Bleile, Regina; Burda, Patricie; Froese, D. Sean; Suormala, Terttu; Zeev, Bruria Ben; Chinnery, Patrick F.; Dionisi‐Vici, Carlo; Dobbelaere, Dries; Gökcay, Gülden; Demirkol, Mübeccel; Häberle, Johannes; Lossos, Alexander; Mengel, Eugen; Morris, Andrew A.; Niezen‐Koning, Kl...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 1(2016)
Page Start:
115
Record Type:
Journal Article
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6. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. Issue 12 (27th September 2017)

Authors:
Schiff, Manuel; Roda, Céline; Monin, Marie-Lorraine; Arion, Alina; Barth, Magali; Bednarek, Nathalie; Bidet, Maud; Bloch, Catherine; Boddaert, Nathalie; Borgel, Delphine; Brassier, Anaïs; Brice, Alexis; Bruneel, Arnaud; Buissonnière, Roger; Chabrol, Brigitte; Chevalier, Marie-Chantal; Cormier-Dai...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 12(2017)
Page Start:
843
Record Type:
Journal Article
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7. Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations. Issue 2 (11th November 2019)

Authors:
Barcia, Giulia; Rio, Marlène; Assouline, Zahra; Zangarelli, Coralie; Gueguen, Naig; Dumas, Valerie D.; Marcorelles, Pascale; Schiff, Manuel; Slama, Abdelhamid; Barth, Magalie; Hully, Marie; de Lonlay, Pascale; Munnich, Arnold; Desguerre, Isabelle; Bonnefont, Jean‐Paul; Steffann, Julie; Procaccio,...
Journal:
Human mutation
Issue:
Volume 41:Issue 2(2020)
Page Start:
397
Record Type:
Journal Article
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8. Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. Issue 4 (12th January 2018)

Authors:
Posset, Roland; Garcia‐Cazorla, Angeles; Valayannopoulos, Vassili; Leão Teles, Elisa; Dionisi‐Vici, Carlo; Brassier, Anaïs; Burlina, Alberto B.; Burgard, Peter; Cortès‐Saladelafont, Elisenda; Dobbelaere, Dries; Couce, Maria L.; Sykut‐Cegielska, Jolanta; Häberle, Johannes; Lund, Allan M.; Chakrapa...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 4(2018)
Page Start:
743
Record Type:
Journal Article
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9. Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias. Issue 4 (12th December 2017)

Authors:
Heringer, Jana; Valayannopoulos, Vassili; Lund, Allan M.; Wijburg, Frits A.; Freisinger, Peter; Barić, Ivo; Baumgartner, Matthias R.; Burgard, Peter; Burlina, Alberto B.; Chapman, Kimberly A.; i Saladelafont, Elisenda Cortès; Karall, Daniela; Mühlhausen, Chris; Riches, Victoria; Schiff, Manuel; S...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 4(2018)
Page Start:
741
Record Type:
Journal Article
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10. Diagnosis of 'possible' mitochondrial disease: an existential crisis. Issue 3 (25th January 2019)

Authors:
Parikh, Sumit; Karaa, Amel; Goldstein, Amy; Bertini, Enrico Silvio; Chinnery, Patrick F; Christodoulou, John; Cohen, Bruce H; Davis, Ryan L; Falk, Marni J; Fratter, Carl; Horvath, Rita; Koenig, Mary Kay; Mancuso, Michaelangelo; McCormack, Shana; McCormick, Elizabeth M; McFarland, Robert; Nesbitt,...
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 3(2019)
Page Start:
123
Record Type:
Journal Article
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