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Should transcobalamin deficiency be treated aggressively? [electronic resource] by
- Schiff, Manuel
- Ogier de Baulny, Hélène
- Bard, Ghislaine
- Barlogis, Vincent
- Hamel, Christian
- Moat, Stuart J
- Odent, Sylvie
- Shortland, Graham
- Touati, Guy
- Giraudier, Stéphane
Producer: 20100928
In:
Journal of inherited metabolic disease vol. 33
Availability: No items available.
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15.
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Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines. [electronic resource] by
- Schiff, Manuel
- Broue, Pierre
- Chabrol, Brigitte
- De Laet, Corinne
- Habes, Dalila
- Mention, Karine
- Sarles, Jacques
- Spraul, Anne
- Valayannopoulos, Vassili
- Ogier de Baulny, Hélène
Producer: 20130404
In:
Journal of inherited metabolic disease vol. 35
Availability: No items available.
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16.
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Transient neonatal renal failure and massive polyuria in MEGDEL syndrome. [electronic resource] by
- Harbulot, Carole
- Paquay, Stéphanie
- Dorboz, Imen
- Pichard, Samia
- Bourillon, Agnès
- Benoist, Jean-François
- Jardel, Claude
- Ogier de Baulny, Hélène
- Boespflug-Tanguy, Odile
- Schiff, Manuel
Producer: 20160622
In:
Molecular genetics and metabolism reports vol. 7
Availability: No items available.
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Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type. [electronic resource] by
- Mercati, Oriane
- Pichard, Samia
- Ouachée, Marie
- Froissart, Roseline
- Fenneteau, Odile
- Roche, Bastien
- Elmaleh-Bergès, Monique
- Bertrand, Yves
- Ogier de Baulny, Hélène
- Vanier, Marie T
- Schiff, Manuel
Producer: 20180509
In:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 21
Availability: No items available.
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How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption? [electronic resource] by
- Boina Abdallah, Amina
- Ogier de Baulny, Hélène
- Kozyraki, Renata
- Passemard, Sandrine
- Fenneteau, Odile
- Lebon, Sophie
- Rigal, Odile
- Mesples, Bettina
- Yacouben, Karima
- Giraudier, Stéphane
- Benoist, Jean-François
- Schiff, Manuel
Producer: 20130129
In:
Molecular genetics and metabolism vol. 107
Availability: No items available.
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Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome. [electronic resource] by
- Pennisi, Alessandra
- Maranda, Bruno
- Benoist, Jean-François
- Baudouin, Véronique
- Rigal, Odile
- Pichard, Samia
- Santer, René
- Romana Lepri, Francesca
- Novelli, Antonio
- Ogier de Baulny, Hélène
- Dionisi-Vici, Carlo
- Schiff, Manuel
Producer: 20210823
In:
Journal of inherited metabolic disease vol. 43
Availability: No items available.
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20.
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Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants. [electronic resource] by
- Bouchereau, Juliette
- Barrot, Sandrine Vuillaumier
- Dupré, Thierry
- Moore, Stuart E H
- Cardas, Ruxandra
- Capri, Yline
- Gaignard, Pauline
- Slama, Abdelhamid
- Delanoë, Catherine
- Ogier de Baulny, Hélène
- Seta, Nathalie
- Schiff, Manuel
- Servais, Laurent
Publication details: JIMD reports 2016
In:
JIMD reports vol. 29
Availability: No items available.
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