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Author/Creator Imbard, Apolline

1. Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy. Issue 9 (12th October 2017)

Authors:
Deschamps, Romain; Savatovsky, Julien; Vignal, Catherine; Fisselier, Matthieu; Imbard, Apolline; Wolf, Barry; Procter, Melinda; Gout, Olivier
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 89:Issue 9(2018)
Page Start:
1009
Record Type:
Journal Article
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2. AICA‐ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long‐term update on the first case. Issue 6 (9th July 2020)

Authors:
Ramond, Francis; Rio, Marlène; Héron, Bénédicte; Imbard, Apolline; Marie, Sandrine; Billiemaz, Kareen; Denommé‐Pichon, Anne‐Sophie; Kuentz, Paul; Ceballos, Irène; Piraud, Monique; Vincent, Marie‐Françoise; Touraine, Renaud
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 6(2020)
Page Start:
1254
Record Type:
Journal Article
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4. FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation. (19th February 2022)

Authors:
Montealegre, Sebastian; Lebigot, Elise; Debruge, Hugo; Romero, Norma; Héron, Bénédicte; Gaignard, Pauline; Legendre, Antoine; Imbard, Apolline; Gobin, Stéphanie; Lacène, Emmanuelle; Nusbaum, Patrick; Hubas, Arnaud; Desguerre, Isabelle; Servais, Aude; Laforêt, Pascal; van Endert, Peter; Authier, F...
Journal:
Neurology
Issue:
Volume 8:Number 1(2022)
Page Start:
Record Type:
Journal Article
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5. FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation. (19th February 2022)

Authors:
Montealegre, Sebastian; Lebigot, Elise; Debruge, Hugo; Romero, Norma; Héron, Bénédicte; Gaignard, Pauline; Legendre, Antoine; Imbard, Apolline; Gobin, Stéphanie; Lacène, Emmanuelle; Nusbaum, Patrick; Hubas, Arnaud; Desguerre, Isabelle; Servais, Aude; Laforêt, Pascal; van Endert, Peter; Authier, F...
Journal:
Neurology
Issue:
Volume 8:Number 1(2022)
Page Start:
Record Type:
Journal Article
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6. FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation. (February 2022)

Authors:
Montealegre, Sebastian; Lebigot, Elise; Debruge, Hugo; Romero, Norma; Héron, Bénédicte; Gaignard, Pauline; Legendre, Antoine; Imbard, Apolline; Gobin, Stéphanie; Lacène, Emmanuelle; Nusbaum, Patrick; Hubas, Arnaud; Desguerre, Isabelle; Servais, Aude; Laforêt, Pascal; van Endert, Peter; Authier, F...
Journal:
Neurology
Issue:
Volume 8:Number 1(2022)
Page Start:
Record Type:
Journal Article
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8. Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency. Issue 4 (9th May 2022)

Authors:
Yverneau, Mathilde; Leroux, Stéphanie; Imbard, Apolline; Gleich, Florian; Arion, Alina; Moreau, Caroline; Nassogne, Marie‐Cécile; Szymanowski, Marie; Tardieu, Marine; Touati, Guy; Bueno, María; Chapman, Kimberly A.; Chien, Yin‐Hsiu; Huemer, Martina; Ješina, Pavel; Janssen, Mirian C. H.; Kölker, S...
Other Names:
Martins Ana Maria investigator.; Alonso Javier Blasco investigator.; Chabrol Brigitte investigator.; Crushell Ellen investigator.; Dionisi‐Vici Carlo investigator.; Grünewald Stephanie investigator.; Mention Karine investigator.; Mundy Helen investigator.; Murphy Elaine investigator.; Fraile Pila...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 4(2022)
Page Start:
848
Record Type:
Journal Article
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9. LC-MS/MS Identification of Prolidase Deficiency: A Rare Cause of Infantile Hepatosplenomegaly. (26th February 2022)

Authors:
Taibi, Ludmia; Schlemmer, Dimitri; Bouchereau, Juliette; Causson, Claudine; Pichard, Samia; Bourrat, Emmanuelle; Melki, Isabelle; Schiff, Manuel; Benoist, Jean-François; Imbard, Apolline
Journal:
Clinical chemistry
Issue:
Volume 68:Number 3(2022)
Page Start:
478
Record Type:
Journal Article
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