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Aline Cano

Showing results (31-40 of 54) with videos related to

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Human Mutation|May 19, 2020
Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseasesElamine Zereg, Annabelle Chaussenot, Godelieve Morel, et al.
European Journal of Human Genetics : EJHG|August 8, 2013
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohortCécile Rouzier, Annabelle Chaussenot, Valérie Serre, et al.
Orphanet Journal of Rare Diseases|March 16, 2019
Betaine anhydrous in homocystinuria: results from the RoCH registryVassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, et al.
Journal of Inherited Metabolic Disease|February 17, 2026
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic DiseasesAline Cano, Xiaoyi Chen, Azza Khemiri, et al.
Molecular Genetics and Metabolism|September 21, 2024
Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare DiseasesJuliette Bouchereau, Camille Wicker, Karine Mention, et al.
Molecular Genetics and Metabolism|August 5, 2023
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute managementCamille Wicker, Charles-Joris Roux, Louise Goujon, et al.
Orphanet Journal of Rare Diseases|February 14, 2026
Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare DiseasesClaire Douillard, Aurélia Poujois, Nadia Belmatoug, et al.
Journal of Inherited Metabolic Disease|March 22, 2017
Neurocognitive profiles in MSUD school-age patientsJuliette Bouchereau, Julie Leduc-Leballeur, Samia Pichard, et al.
The Journal of Pediatrics|October 20, 2022
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis ApproachAbdoulaye Ouattara, Noemie Resseguier, Aline Cano, et al.
Journal of Inherited Metabolic Disease|January 21, 2023
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin-1-deficient patientsCaroline Tuchmann-Durand, Célina Roda, Perrine Renard, et al.
Pageof 6

Showing results (31-40 of 54) with videos related to

Sort By:
Pageof 6
Human Mutation|May 19, 2020
Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseasesElamine Zereg, Annabelle Chaussenot, Godelieve Morel, et al.
European Journal of Human Genetics : EJHG|August 8, 2013
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohortCécile Rouzier, Annabelle Chaussenot, Valérie Serre, et al.
Orphanet Journal of Rare Diseases|March 16, 2019
Betaine anhydrous in homocystinuria: results from the RoCH registryVassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, et al.
Journal of Inherited Metabolic Disease|February 17, 2026
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic DiseasesAline Cano, Xiaoyi Chen, Azza Khemiri, et al.
Molecular Genetics and Metabolism|September 21, 2024
Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare DiseasesJuliette Bouchereau, Camille Wicker, Karine Mention, et al.
Molecular Genetics and Metabolism|August 5, 2023
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute managementCamille Wicker, Charles-Joris Roux, Louise Goujon, et al.
Orphanet Journal of Rare Diseases|February 14, 2026
Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare DiseasesClaire Douillard, Aurélia Poujois, Nadia Belmatoug, et al.
Journal of Inherited Metabolic Disease|March 22, 2017
Neurocognitive profiles in MSUD school-age patientsJuliette Bouchereau, Julie Leduc-Leballeur, Samia Pichard, et al.
The Journal of Pediatrics|October 20, 2022
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis ApproachAbdoulaye Ouattara, Noemie Resseguier, Aline Cano, et al.
Journal of Inherited Metabolic Disease|January 21, 2023
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin-1-deficient patientsCaroline Tuchmann-Durand, Célina Roda, Perrine Renard, et al.
Pageof 6