A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE)

Authors: Bénédicte Héron, Spyros Batzios, Eugen Mengel, Roberto Giugliani, Marc Patterson, Matthias Gautschi, Peter Cornelisse, Luba Trokan, Barbara Schwierin, Marianne Rohrbach

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

Subject Terms: GM1 gangliosidosis, GM2 gangliosidoses, Gaucher disease type 2, Lysosomal storage disorder, Infants, Natural history, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/395c54a9c19542dcae550c53af3693de

Acid sphingomyelinase deficiency in France: a retrospective survival study

Authors: Wladimir Mauhin, Nathalie Guffon, Marie T. Vanier, Roseline Froissart, Aline Cano, Claire Douillard, Christian Lavigne, Bénédicte Héron, Nadia Belmatoug, Yurdagül Uzunhan, Didier Lacombe, Thierry Levade, Aymeric Duvivier, Ruth Pulikottil-Jacob, Fernando Laredo, Samia Pichard, Olivier Lidove, ASSUR Study Group

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)

Subject Terms: Acid sphingomyelinase deficiency (ASMD), Niemann–Pick disease, Mortality, Survival, Niemann–Pick disease type B, Standardised mortality ratio, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/ab41a96d0cef4ab491a951b59def6bd6

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study

Authors: Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, Pierre Broué, Claude Cances, Brigitte Chabrol, Didier Eyer, François Labarthe, Philippe Latour, Thierry Levade, Samia Pichard, Caroline Sevin, Marie T. Vanier, Bénédicte Héron

Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)

Subject Terms: Niemann-Pick disease type C, Paediatric, Early infantile, Miglustat, Efficacy, Survival, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/d0db1ae2428d44aaa88b5dbf853effc1

Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities—the TENALYS study, a patient perspective survey

Authors: Delphine Genevaz, Armelle Arnoux, Catherine Marcel, Anaïs Brassier, Samia Pichard, François Feillet, François Labarthe, Brigitte Chabrol, Marc Berger, Anne-Sophie Lapointe, Yvann Frigout, Bénédicte Héron, Gilles Chatellier, Nadia Belmatoug

Source: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)

Subject Terms: Lysosomal diseases, Transition from childhood to adulthood, Patient survey, Patient opinion, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/8505fbb97e2847ea9c50de0114925eb6

Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach

Authors: Sally Lanar, Samantha Parker, Cara O’Neill, Alexia Marrel, Benoit Arnould, Bénédicte Héron, Nicole Muschol, Frits A. Wijburg, Anupam Chakrapani, Sophie Olivier, Karen Aiach

Source: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)

Subject Terms: MPS IIIA, Qualitative research, Thematic analysis, Natural history study, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/13f5855d754b4424a5c8cc19369ada71

Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

Authors: Eugen Mengel, Bruno Bembi, Mireia del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Grønborg, Bénédicte Héron, Esther M. Maier, Agathe Roubertie, Saikat Santra, Anna Tylki-Szymanska, Simon Day, Tara Symonds, Stacie Hudgens, Marc C. Patterson, Christina Guldberg, Linda Ingemann, Nikolaj H. T. Petersen, Thomas Kirkegaard, Christine í Dali

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-3 (2021)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/3525e157591141978b324498de1df8af

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

Authors: Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, A. H. M. Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic

Source: Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1263-1272 (2019)

Subject Terms: Encephalopathy, epilepsy, KCNC1, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2328-9503

Access URL: https://doaj.org/article/54285d5342f7454b9058aec28ec2c677

Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses

Authors: Kim Maincent, Bénédicte Héron, Thierry Billette de Villemeur, Michèle Mayer

Source: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)

Subject Terms: Mucopolysaccharidoses, Hunter, Hurler, Hurler-Scheie, Nerve conduction study, Electroneurography, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0937-9; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/7f2a9ca4040b423784a1a8b318a67b8d

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

Authors: Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloe Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois, Emmanuel Roze, Foudil Lamari, Marie T. Vanier, Bénédicte Héron

Source: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)

Subject Terms: Niemann-pick disease type C, Adult-onset, Epidemiology, Miglustat, Efficacy, Safety, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0913-4; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/78eb2cb04dab43348fe7f8edcd6dfb27

Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis

Authors: Abdellah Tebani, Lenaig Abily-Donval, Isabelle Schmitz-Afonso, Bénédicte Héron, Monique Piraud, Jérôme Ausseil, Farid Zerimech, Bruno Gonzalez, Stéphane Marret, Carlos Afonso, Soumeya Bekri

Source: Journal of Translational Medicine, Vol 16, Iss 1, Pp 1-14 (2018)

Subject Terms: Metabolomics, Inborn errors of metabolism, Mucopolysaccharidosis type III, Lysosomal storage diseases, Mass spectrometry, Ion mobility, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12967-018-1625-1; https://doaj.org/toc/1479-5876

Access URL: https://doaj.org/article/2a82a7d9a17a4d6fa0fa6281709f1a3a

Consensus clinical management guidelines for Niemann-Pick disease type C

Authors: Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson, on behalf of the International Niemann-Pick Disease Registry (INPDR)

Source: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-19 (2018)

Subject Terms: Niemann-Pick Type C, NPC, Guidelines, Diagnosis, Management, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0785-7; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/133c728d8bde41bfb85dc58ba966d00c

Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel

Authors: Bénédicte Sudrié-Arnaud, Sarah Snanoudj, Ivana Dabaj, Hélène Dranguet, Lenaig Abily-Donval, Axel Lebas, Myriam Vezain, Bénédicte Héron, Isabelle Marie, Marc Duval-Arnould, Stéphane Marret, Abdellah Tebani, Soumeya Bekri

Source: Diagnostics, Vol 11, Iss 2, p 294 (2021)

Subject Terms: NGS, next generation sequencing, inborn errors of metabolism, lysosomal disorders, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.mdpi.com/2075-4418/11/2/294; https://doaj.org/toc/2075-4418

Access URL: https://doaj.org/article/4764e4163ff54fe0adc720d1a3774f8f

Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.

Authors: Charlotte Mouden, Marie de Tayrac, Christèle Dubourg, Sophie Rose, Wilfrid Carré, Houda Hamdi-Rozé, Marie-Claude Babron, Linda Akloul, Bénédicte Héron-Longe, Sylvie Odent, Valérie Dupé, Régis Giet, Véronique David

Source: PLoS ONE, Vol 10, Iss 2, p e0117418 (2015)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4319975?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/64dc7400317b48858eaf50a81f960129

Recurrent 'outsider' intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb

Authors: Lamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, Céline Latouche, Bénédicte Heron, Tanya Stojkovic, Mélanie Rama, Thomas Smol, Anne Sophie Jourdain, Karine Mention, Yann Nadjar, Manuel Schiff, Julie Lemale, Jamal Ghoumid, Frédéric Gottrand, Cécile Talbotec, Agnès Rötig, Benoît Funalot, Isabelle Desguerre

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: multivitamin deficiency, intronic variation, splicing, recurrent, mixed neuropathy, optic atrophy, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1352006/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/996c5f2b1d304ade96264a8eba265cad

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity

Authors: Laura Planas-Serra, Nathalie Launay, Leire Goicoechea, Bénédicte Heron, Cristina Jou, Natalia Juliá-Palacios, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Carolina De La Torre, Antoinette Gelot, Maria Marsal, Pablo Loza-Alvarez, Àngels García-Cazorla, Ali Fatemi, Isidre Ferrer, Manel Portero-Otin, Estela Area-Gómez, Aurora Pujol

Source: The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)

Subject Terms: Metabolism, Neuroscience, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1558-8238

Access URL: https://doaj.org/article/57a458aa84644ca19559b39fa3a6a489

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Herpes simplex encephalitis: diagnostic problems and late relapse.

Authors: Xavier De Tiège, Flore Rozenberg, Karine Burlot, Joël Gaudelus, Gérard Ponsot, Bénédicte Héron

Source: Developmental Medicine & Child Neurology; Jan2006, Vol. 48 Issue 1, p60-63, 4p

Subject Terms: HERPES simplex, ENCEPHALITIS, BRAIN diseases, ARTICULATION disorders, SPEECH disorders

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