Thierry Billette de Villemeur

Thierry Billette de Villemeur

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Thierry Billette de Villemeur

Thierry Billette de Villemeur

Publications by authors named "Thierry Billette de Villemeur"

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Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome.

J Neurol Neurosurg Psychiatry 2019 Nov 6. Epub 2019 Nov 6.

Faculté de Médecine de Sorbonne Université, UMR S 1127, Inserm U 1127, and CNRS UMR 7225, and Institut du Cerveau et de la Moelle épinière, Paris, France

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http://dx.doi.org/10.1136/jnnp-2019-321694DOI Listing
November 2019

Polyhandicap and aging.

Disabil Health J 2019 10 26;12(4):657-664. Epub 2019 Feb 26.

EA 3279, Self-perceived Health Assessment Research Unit, School of Medicine, Aix Marseille Université, 27 Bd Jean Moulin, Marseille, 13385, France. Electronic address:

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http://dx.doi.org/10.1016/j.dhjo.2019.01.013DOI Listing
October 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2019 Jun 29. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
June 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

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

Orphanet J Rare Dis 2018 11 21;13(1):209. Epub 2018 Nov 21.

Department of Pediatric Neurology, CHU Trousseau, APHP, Paris, France.

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http://dx.doi.org/10.1186/s13023-018-0937-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6249914PMC
November 2018

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Eur J Paediatr Neurol 2018 May 16;22(3):369-379. Epub 2018 Feb 16.

Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.02.007DOI Listing
May 2018

Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease.

Haematologica 2018 04 5;103(4):587-596. Epub 2018 Jan 5.

University Sorbonne Paris Cité, Paris Diderot University, Inserm U1149 / ERL 8252, Inflammation Research Center (CRI), Laboratory of Excellence GR-Ex, Paris, France

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http://www.haematologica.org/lookup/doi/10.3324/haematol.201
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http://dx.doi.org/10.3324/haematol.2017.177816DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865418PMC
April 2018

Type 3 Gaucher disease, diagnostic in adulthood.

Mol Genet Metab Rep 2017 Dec 11;13:1-2. Epub 2017 Jul 11.

Service d'hématologie, Hôpital saint Vincent de Paul, Université Catholique de Lille, 59000 Lille, France.

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http://dx.doi.org/10.1016/j.ymgmr.2017.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5508612PMC
December 2017

Optimization of ultra-high pressure liquid chromatography - tandem mass spectrometry determination in plasma and red blood cells of four sphingolipids and their evaluation as biomarker candidates of Gaucher's disease.

J Chromatogr A 2017 Nov 14;1525:116-125. Epub 2017 Oct 14.

Lip(Sys)(2), LETIAM, Univ. Paris Sud, Université Paris-Saclay, IUT d'Orsay, Plateau de Moulon, F-91400 Orsay, France; Sorbonne Université, UPMC, GRC ConCer-LD et AP-HP, Hôpitaux Trousseau, Service de Neuropédiatrie-Pathologie du développement, Paris, France.

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http://dx.doi.org/10.1016/j.chroma.2017.10.038DOI Listing
November 2017

Effect of velaglucerase alfa enzyme replacement therapy on red blood cell properties in Gaucher disease.

Am J Hematol 2017 Sep 19;92(9):E561-E563. Epub 2017 Jul 19.

Université Sorbonne Paris Cité, Université Paris Diderot, Inserm, INTS, Unité Biologie Intégrée du Globule Rouge, Laboratoire d'Excellence GR-Ex, Paris, France.

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http://dx.doi.org/10.1002/ajh.24816DOI Listing
September 2017

Single-Step Rapid Diagnosis of Dopamine and Serotonin Metabolism Disorders.

ACS Omega 2017 Sep 19;2(9):5962-5972. Epub 2017 Sep 19.

Letiam, Lip(Sys), EA7357, IUT d'Orsay, Université Paris Sud, Plateau de Moulon, 91400 Orsay, France.

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http://dx.doi.org/10.1021/acsomega.7b01008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6044980PMC
September 2017

Impact of caring for patients with severe and complex disabilities on health care workers' quality of life: determinants and specificities.

Dev Med Child Neurol 2017 07 22;59(7):732-737. Epub 2017 Apr 22.

Self-Perceived Health Assessment Research Unit, School of Medicine, Aix Marseille Université, Marseille, France.

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http://dx.doi.org/10.1111/dmcn.13428DOI Listing
July 2017

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

J Pediatr 2017 06 8;185:160-166.e1. Epub 2017 Mar 8.

APHP, GH Pitié Salpêtrière, Department of genetics, unit of medical genetics, reference center for intellectual disabilities of rare causes, Paris, France; GRC Intellectual Disability and Autism, UPMC, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France; APHP, Hôpital Armand-Trousseau, Department of genetics, Division of clinical genetics, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2017.02.023DOI Listing
June 2017

Unexpected macrophage-independent dyserythropoiesis in Gaucher disease.

Haematologica 2016 12 28;101(12):1489-1498. Epub 2016 Jul 28.

Université Sorbonne Paris Cité, Université Paris Diderot, Inserm, INTS, Unité Biologie Intégrée du Globule Rouge, Laboratoire d'Excellence GR-Ex, Paris

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http://dx.doi.org/10.3324/haematol.2016.147546DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5479608PMC
December 2016

Evaluation of quality of life in individuals with severe chronic motor disability: A major challenge.

Intractable Rare Dis Res 2016 May;5(2):83-9

EA3279 Santé Publique: Maladies Chroniques et Qualité de Vie, Faculté de Médecine Timone Marseille, Paris, France.

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http://dx.doi.org/10.5582/irdr.2016.01017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4869587PMC
May 2016

Quality of life in patients with locked-in syndrome: Evolution over a 6-year period.

Orphanet J Rare Dis 2015 Jul 19;10:88. Epub 2015 Jul 19.

EA 3279 Self-Perceived Health Assessment Research Unit, School of Medicine, Aix Marseille Université, Marseille, France.

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http://www.ojrd.com/content/10/1/88
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http://dx.doi.org/10.1186/s13023-015-0304-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4506615PMC
July 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Simultaneous determination of all forms of biopterin and neopterin in cerebrospinal fluid.

ACS Chem Neurosci 2014 Jul 8;5(7):533-41. Epub 2014 Apr 8.

LETIAM, GCAPS, EA 4041, IUT d'Orsay, Université Paris Sud 11, Plateau de Moulon. 91400 Orsay, France.

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http://dx.doi.org/10.1021/cn4001928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102970PMC
July 2014

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

Hum Mutat 2014 Apr 6;35(4):462-9. Epub 2014 Mar 6.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada; Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.22511DOI Listing
April 2014

Creutzfeldt-Jakob disease.

Handb Clin Neurol 2013 ;112:1191-3

Pediatric Neurology Service, Pathologie du Développement, Hôpital Trousseau, Université Pierre et Marie Curie-Paris VI, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-52910-7.00040-4DOI Listing
March 2014

Gaucher disease.

Handb Clin Neurol 2013 ;113:1709-15

Pediatric Neurology Service, Pathologie du Développement, Hôpital Trousseau, Université Pierre et Marie Curie-Paris VI, Paris, France.

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00040-XDOI Listing
March 2014

Evaluation of quality of life in complete locked-in syndrome patients.

J Palliat Med 2013 Nov;16(11):1455-8

1 Federation Polyhandicap Multihandicap Assistance Publique Hopitaux De Paris , Hyeres, France .

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http://dx.doi.org/10.1089/jpm.2013.0120DOI Listing
November 2013

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.

Brain Dev 2013 Feb 26;35(2):172-6. Epub 2012 Apr 26.

APHP, Groupe Hospitalier Pitié Salpêtrière, Unité Fonctionnelle de Génétique Médicale, Paris, France.

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http://dx.doi.org/10.1016/j.braindev.2012.03.010DOI Listing
February 2013

Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports.

Cleft Palate Craniofac J 2012 May 3;49(3):357-64. Epub 2011 May 3.

Department of Pediatric Maxillo-Facial and Plastic Surgery, Hôpital d'Enfant Armand-Trousseau, AP-HP, 26 Avenue du Dr. Arnold Netter, 75571, Paris, France.

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http://dx.doi.org/10.1597/10-203DOI Listing
May 2012

[Gaucher disease].

Rev Prat 2011 Feb;61(2):165-8

Service de médecine interne, hôpital Jean-Verdier (AP-HP), centre de référence des maladies lysosomales (CRML), université Paris-13, 93140 Bondy.

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February 2011

Astrocytic demise in the developing rat and human brain after hypoxic-ischemic damage.

Dev Neurosci 2009 11;31(5):459-70. Epub 2009 Aug 11.

Département de Neuropathologie, Service d'Anatomie et Cytologie Pathologiques, Hôpital A. Trousseau, Paris, France.

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http://dx.doi.org/10.1159/000232564DOI Listing
November 2009

Microcephaly: a radiological review.

Pediatr Radiol 2009 Aug 13;39(8):772-80; quiz 888-9. Epub 2009 May 13.

Radiology Department, Hôpital d'Enfants Armand-Trousseau, Université Paris VI Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1007/s00247-009-1266-xDOI Listing
August 2009

24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy.

Mol Genet Metab 2009 Feb 13;96(2):55-8. Epub 2008 Nov 13.

Department of Neuroradiology and Center for NeuroImaging Research-CENIR , Pitié-Salpêtrière Hospital, Assistance Publique Hôpitaux de Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2008.10.002DOI Listing
February 2009

First cryptic balanced reciprocal translocation mosaicism and familial transmission.

Am J Med Genet A 2008 Nov;146A(22):2971-4

Service d'Histologie-Embryologie et Cytogenetique, Biologie de la Reproduction, Hopital Jean Verdier, AP-HP, Bondy, France.

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http://dx.doi.org/10.1002/ajmg.a.32547DOI Listing
November 2008

Lung disease in Niemann-Pick disease.

Pediatr Pulmonol 2007 Dec;42(12):1207-14

AP-HP, Hopital Armand Trousseau, Pediatric Pulmonary Department, Paris, France.

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http://dx.doi.org/10.1002/ppul.20725DOI Listing
December 2007

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency.

Mov Disord 2006 Feb;21(2):263-6

Department of Neurology, Saint-Antoine Hospital, Paris, France, and Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland.

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http://dx.doi.org/10.1002/mds.20699DOI Listing
February 2006

Type 2 Gaucher disease: 15 new cases and review of the literature.

Brain Dev 2006 Jan;28(1):39-48

Service de Neurologie Pédiatrique, Hôpital Armand Trousseau, AP-HP, Paris, Centre de Référence des Maladies Lysosomiales, 26 avenue du docteur Arnold Netter, 75012 Paris, France

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http://dx.doi.org/10.1016/j.braindev.2005.04.005DOI Listing
January 2006

[Gaucher's disease ].

J Soc Biol 2002 ;196(2):141-9

Service de Médecine Interne, Hôpital Beaujon, 100 boulevard du Général Leclerc, 92118, Clichy.

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November 2002

[French results of enzyme replacement therapy in Gaucher's disease].

Bull Acad Natl Med 2002 ;186(5):851-61; discussion 861-3

Service de Pédiatrie à Orientation hématologique-Hôpital Saint Louis-1, avenue Claude Vellefaux-75475 Paris.

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November 2002