Publications by authors named "Philippe Labrune"

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Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays.
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Philippe Labrune

Clin Genet· December 2025

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Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.
Médéric Jeanne, Nathalie Ronce, Solène Remizé, Stéphanie Arpin, Geneviève Baujat, Philippe Labrune

J Med Genet· March 2025

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CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Clara D M van Karnebeek, Maja Tarailo-Graovac, René Leen, Rutger Meinsma, Solenne Correard, Philippe Labrune

Genet Med· June 2024

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Gene Therapy in Patients with the Crigler-Najjar Syndrome.
Lorenzo D'Antiga, Ulrich Beuers, Giuseppe Ronzitti, Nicola Brunetti-Pierri, Ulrich Baumann, Philippe Labrune

N Engl J Med· August 2023

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French recommendations for the management of glycogen storage disease type III.
Camille Wicker, Aline Cano, Valérie Decostre, Roseline Froissart, François Maillot, Philippe Labrune

Eur J Med Res· July 2023

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Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach.
Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, Pascale De Lonlay, Jean-Baptiste Arnoux, Philippe Labrune

J Pediatr· March 2023

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Management of copy number variants associated with incomplete penetrance and variable expressivity-Results of a French survey.
Floriane Lejamtel, Cécile Oheix, Elisa Morales, Jelena Martinovic, Philippe Labrune

Clin Genet· March 2023

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Disease burden and management of Crigler-Najjar syndrome: Report of a world registry.
Sem J Aronson, Norman Junge, Mediha Trabelsi, Wided Kelmemi, Aurelie Hubert, Philippe Labrune

Liver Int· July 2022

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Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy.
Laure Monteillet, Philippe Labrune, Michel Hochuli, Jeremy Do Cao, Antonin Tortereau

Hum Mol Genet· March 2022

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Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.
Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, Pascale De Lonlay, Jean-Baptiste Arnoux, Philippe Labrune

J Pediatr· March 2022

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Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
Terry G J Derks, David F Rodriguez-Buritica, Ayesha Ahmad, Foekje de Boer, María L Couce, Philippe Labrune

Nutrients· October 2021

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Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects.
Édouard Berling, Pascal Laforêt, Karim Wahbi, Philippe Labrune, François Petit

J Inherit Metab Dis· May 2021

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Puberty and fertility in classic galactosemia.
Isabelle Flechtner, Magali Viaud, Dulanjalee Kariyawasam, Marie Perrissin-Fabert, Maud Bidet, Philippe Labrune

Endocr Connect· February 2021

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Galactokinase deficiency: lessons from the GalNet registry.
M Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, Uta Meyer, Dorothea Möslinger, Philippe Labrune

Genet Med· January 2021

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Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort.
Camille Wicker, Célina Roda, Ariane Perry, Jean Baptiste Arnoux, Anais Brassier, Philippe Labrune

Mol Genet Metab Rep· June 2020

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Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.
Aline Cano, Noemie Resseguier, Abdoulaye Ouattara, Pascale De Lonlay, Jean-Baptiste Arnoux, Philippe Labrune

J Pediatr· May 2020

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Papillary renal cell carcinoma in two young adults with glycogen storage disease type Ia.
Ariane Perry, Claire Douillard, Frederic Jonca, Francois Glowacki, Xavier Leroy, Philippe Labrune

JIMD Rep· March 2020

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Regenerative cell therapy for the treatment of hyperbilirubinemic Gunn rats with fresh and frozen human induced pluripotent stem cells-derived hepatic stem cells.
Angélique Fourrier, Frédéric Delbos, Séverine Menoret, Camille Collet, Linh Trinh Thi Thuy, Philippe Labrune

Xenotransplantation· January 2020

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Prevalence and Relevance of Pre-Existing Anti-Adeno-Associated Virus Immunity in the Context of Gene Therapy for Crigler-Najjar Syndrome.
Sem J Aronson, Philippe Veron, Fanny Collaud, Aurélie Hubert, Virginie Delahais, Philippe Labrune

Hum Gene Ther· October 2019

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Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.
Pascal Laforêt, Michio Inoue, Evelyne Goillot, Claire Lefeuvre, Umut Cagin, Philippe Labrune

Acta Neuropathol Commun· October 2019

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Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III.
David Tobaly, Pascal Laforêt, Ariane Perry, Dalila Habes, Philippe Labrune

Muscle Nerve· July 2019

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Dental and periodontal manifestations of glycogen storage diseases: a case series of 60 patients.
Martin Biosse Duplan, Aurélie Hubert, Elvire Le Norcy, Alice Louzoun, Ariane Perry, Philippe Labrune

J Inherit Metab Dis· November 2018

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Clinical heterogeneity and phenotype/genotype findings in 5 families with deficiency.
Rabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, Julia R Dahlqvist, David Gaist, Philippe Labrune

Neurol Genet· December 2017

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Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa.
Valérie Decostre, Pascal Laforêt, Marie De Antonio, Kahina Kachetel, Aurélie Canal, Philippe Labrune

Mol Genet Metab· November 2017

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Fertility in adult women with classic galactosemia and primary ovarian insufficiency.
Britt van Erven, Gerard T Berry, David Cassiman, Geraldine Connolly, Maria Forga, Philippe Labrune

Fertil Steril· July 2017

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