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Monique Piraud

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Ségolène Billot; Kristl G Claeys; Roseline Froissart; Dominique Hervé; Hasan O Akman; Christiane Baussan; Fanny Mochel; Monique Piraud; Frédéric Sedel; Pascal Laforêt
Acute but transient neurological deterioration revealing adult polyglucosan body disease.
A Brassier; Bernadette Chadefaux-Vekemans; V Cormier-Daire; Tania Attié-Bitach; G Baujat; N Boddaert; Roseline Froissart; A-E Millischer-Bellaiche; C Ottolenghi; Monique Piraud; N Seta; P Sonigo; Vassili Valayannopoulos; Christine Vianey-Saban; Pascale de Lonlay
[Prenatal symptoms and diagnosis of inherited metabolic diseases].
Françoise Piguet; Monique Piraud; Dolan Sondhi; Marie-Thérèse Vanier; Ornella Ahouansou; Patrick Aubourg; Ivan Bieche; Nathalie Cartier; Ronald G Crystal; Françoise Fouquet; Neil R Hackett; Caroline Sevin
Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice.

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All Publications

2013: Ségolène Billot; Kristl G Claeys; Roseline Froissart; Dominique Hervé; Hasan O Akman; Christiane Baussan; Fanny Mochel; Monique Piraud; Frédéric Sedel; Pascal Laforêt
Acute but transient neurological deterioration revealing adult polyglucosan body disease.
Journal of the neurological sciences 2013;324(1-2):179-82.
2012: A Brassier; Bernadette Chadefaux-Vekemans; V Cormier-Daire; Tania Attié-Bitach; G Baujat; N Boddaert; Roseline Froissart; A-E Millischer-Bellaiche; C Ottolenghi; Monique Piraud; N Seta; P Sonigo; Vassili Valayannopoulos; Christine Vianey-Saban; Pascale de Lonlay
[Prenatal symptoms and diagnosis of inherited metabolic diseases].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2012;19(9):959-69.
2012: Françoise Piguet; Monique Piraud; Dolan Sondhi; Marie-Thérèse Vanier; Ornella Ahouansou; Patrick Aubourg; Ivan Bieche; Nathalie Cartier; Ronald G Crystal; Françoise Fouquet; Neil R Hackett; Caroline Sevin
Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice.
Human gene therapy 2012;23(8):903-14.
2012: Edoardo Malfatti; François M Petit; Monique Piraud; Norma B Romero; Nazha Birouk; Jean-Yves Hogrel; Pascal Laforêt
Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency.
Journal of the neurological sciences 2012;316(1-2):173-7.
2012: Sarah P Young; Haoyue Zhang; Mustafa R Bashir; Jennifer L Goldstein; Priya S Kishnani; Pascal Laforet; David S Millington; Monique Piraud; Catherine W Rehder; Deeksha Bali
Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.
American journal of medical genetics. Part C, Seminars in medical genetics 2012;160(1):50-8.
2012: Joffrey De Larichaudy; Marine Desgeorges; Kevin Dessalle; Andrea M Isidori; Etienne Lefai; fabio naro; Monique Piraud; Filippo Serra; Hubert Vidal; Alessandra Zufferli; David Cheillan; Georges Némoz
TNF-α- and tumor-induced skeletal muscle atrophy involves sphingolipid metabolism.
Skeletal muscle 2012;2(1):2.
2011: Jeroen van den Bosch; Frans W Verheijen; Malgorzata I Srebniak; Jan G M Huijmans; Linda F Oemardien; Monique Piraud; George J G Ruijter
Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.
Journal of inherited metabolic disease 2011;34(5):1069-73.
2011: Arnold J J Reuser; Otto P van Diggelen; Frans W Verheijen; Birgit Wuyts; Kate Zhang; Deeksha Bali; Dominique P Germain; Wuh-Liang Hwu; Zoltan Lukacs; Adolf Mühl; Petra Olivova; Monique Piraud; Joan Keutzer
The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.
Molecular genetics and metabolism 2011;104(1-2):144-8.
2011: Anne Davit-Spraul; Dries Dobbelaere; Dalila Habes; Emmanuel Jacquemin; Philippe Labrune; Monique Piraud; Vassili Valayannopoulos; Olivier Bernard; Christiane Baussan
Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.
Molecular genetics and metabolism 2011;104(1-2):137-43.
2011: N Matthew Ellinwood; Jérôme Ausseil; Nathalie Desmaris; Stéphanie Bigou; Song Liu; Jackie K Jens; Elizabeth M Snella; Eman E A Mohammed; Christopher B Thomson; Sylvie Raoul; Béatrice Joussemet; Françoise Roux; Yan Chérel; Yaouen Lajat; Monique Piraud; Rachid Benchaouir; Stephan Hermening; Harald Petry; Roseline Froissart; Marc Tardieu; Carine Ciron; Philippe Moullier; Jennifer Parkes; Karen L Kline; Irène Maire; Marie-Thérèse Vanier; Jean Michel Heard; Marie-Anne Colle
Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes.
Molecular therapy : the journal of the American Society of Gene Therapy 2011;19(2):251-9.
2011: Roseline Froissart; Vincent Gajdos; Aurélie Hubert-Buron; Alix Mollet Boudjemline; Pascale Trioche Eberschweiler; François M Petit; Monique Piraud; Christine Vianey-Saban; Philippe Labrune
Glucose-6-phosphatase deficiency.
Orphanet journal of rare diseases 2011;6():27.
2011: Donia Amrouni; Anne Meiller; Sabine Gautier-Sauvigné; Monique Piraud; Bernard Bouteille; Philippe Vincendeau; Alain Buguet; Raymond Cespuglio
Cerebral changes occurring in arginase and dimethylarginine dimethylaminohydrolase (DDAH) in a rat model of sleeping sickness.
PloS one 2011;6(3):e16891.
2011: Monique Piraud; Séverine Ruet; Sylvie Boyer; Cécile Acquaviva; Pascale Clerc-Renaud; David Cheillan; Christine Vianey-Saban
Amino acid profiling for the diagnosis of inborn errors of metabolism.
Methods in molecular biology (Clifton, N.J.) 2011;708():25-53.
2010: Roseline Froissart; Monique Piraud; Irène Maire
[Contribution of genotyping in Fabry's disease].
La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne 2010;31 Suppl 2():S275-8.
2010: Monique Piraud; Irène Maire; Roseline Froissart
[Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease].
La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne 2010;31 Suppl 2():S270-4.
2010: Kristl G Claeys; Jean-François Pellissier; Federico Garcia-Bragado; Joachim Weis; Andoni Urtizberea; Juan-Jose Poza; Ana-Maria Cobo; Gisela Stoltenburg; Dominique Figarella-Branger; Patrick J Willems; Christophe E Depuydt; Wolfgang Kleiner; Jean Pouget; Monique Piraud; Guy Brochier; Norma B Romero; Michel Fardeau; Hans H Goebel; Carsten G Bönnemann; Thomas Voit; Bruno Eymard; Pascal Laforêt
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.
Neuromuscular disorders : NMD 2010;20(11):701-8.
2010: Cees Bruggink; Ben J H M Poorthuis; Monique Piraud; Roseline Froissart; André M Deelder; Manfred Wuhrer
Glycan profiling of urine, amniotic fluid and ascitic fluid from galactosialidosis patients reveals novel oligosaccharides with reducing end hexose and aldohexonic acid residues.
The FEBS journal 2010;277(14):2970-86.
2009: Tanya Stojkovic; John Vissing; François Petit; Monique Piraud; Mette C Orngreen; Grete Andersen; Kristl G Claeys; Claire Wary; Jean-Yves Hogrel; Pascal Laforêt
Muscle glycogenosis due to phosphoglucomutase 1 deficiency.
The New England journal of medicine 2009;361(4):425-7.
2005: Monique Piraud; Fanny de Goiffon; Roseline Froissart; Irène Maire; Marie-Thérèse Vanier
[Globotriaosylceramide measurement in urine.].
Médecine sciences : M/S 2005;21(11 Suppl):45-7.
2005: Roseline Froissart; David Cheillan; R Bouvier; S Tourret; V Bonnet; Monique Piraud; Irène Maire
Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.
Journal of medical genetics 2005;42(11):829-36.
2005: Monique Piraud; Christine Vianey-Saban; C Bourdin; C Acquaviva-Bourdain; S Boyer; Claire Elfakir; Denis Bouchu
A new reversed-phase liquid chromatographic/tandem mass spectrometric method for analysis of underivatised amino acids: evaluation for the diagnosis and the management of inherited disorders of amino acid metabolism.
Rapid communications in mass spectrometry : RCM 2005;19(22):3287-97.
2005: Monique Piraud; Christine Vianey-Saban; Konstantinos Petritis; Claire Elfakir; Jean-Paul Steghens; Denis Bouchu
Ion-pairing reversed-phase liquid chromatography/electrospray ionization mass spectrometric analysis of 76 underivatized amino acids of biological interest: a new tool for the diagnosis of inherited disorders of amino acid metabolism.
Rapid communications in mass spectrometry : RCM 2005;19(12):1587-602.
2004: Steven L Ramsay; Irène Maire; Colleen A Bindloss; Maria Fuller; Phillip D Whitfield; Monique Piraud; John J Hopwood; Peter J Meikle
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.
Molecular genetics and metabolism 2004;83(3):231-8.
2004: Sébastien Cognat; David Cheillan; Monique Piraud; Birthe Roos; Cornelis Jakobs; Christine Vianey-Saban
Determination of guanidinoacetate and creatine in urine and plasma by liquid chromatography-tandem mass spectrometry.
Clinical chemistry 2004;50(8):1459-61.
2003: Monique Piraud; Christine Vianey-Saban; Konstantinos Petritis; Claire Elfakir; Jean-Paul Steghens; Aymeric Morla; Denis Bouchu
ESI-MS/MS analysis of underivatised amino acids: a new tool for the diagnosis of inherited disorders of amino acid metabolism. Fragmentation study of 79 molecules of biological interest in positive and negative ionisation mode.
Rapid communications in mass spectrometry : RCM 2003;17(12):1297-311.