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Irène Maire

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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.
Roseline Froissart; Monique Piraud; Irène Maire
[Contribution of genotyping in Fabry's disease].
Monique Piraud; Irène Maire; Roseline Froissart
[Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease].

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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.
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: Ilhem Barboura; Selima Ferchichi; A Dandana; Z Jaidane; Souhaira Ben Khelifa; Hinda Chahed; R Ben Mansour; Saber CHEBEL; Irène Maire; Abdelhedi Miled
[Metachromatic leucodystrophy. Clinical, biological, and therapeutic aspects].
Annales de biologie clinique 2010;68(4):385-91.
2008: David Cheillan; Céline Malleval; Jérôme Ausseil; Sandrine Vitry; Jean Michel Heard; Irène Maire; Jérôme Honnorat; Marie-Françoise Belin; Monique Touret
Abnormal expression of truncated CRMP-1 protein in the brain cortex of MPSIIIB mice.
Molecular genetics and metabolism 2008;94(1):135-8.
2008: Jérôme Ausseil; Nathalie Desmaris; Stéphanie Bigou; Ruben Attali; Sébastien Corbineau; Sandrine Vitry; Mathieu Parent; David Cheillan; Maria Fuller; Irène Maire; marie T vanier; Jean Michel Heard
Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice.
PloS one 2008;3(5):e2296.
2007: A Dandana; Selima Ferchichi; S Khedhiri; L Chkioua; Z Jaidane; K Monastiri; S Ben Khelifa; R Ben Mansour; Irène Maire; Roseline Froissart; V Bonnet; Sandrine Laradi; Abdelhedi Miled
[Biochemical and molecular diagnosis of Gaucher disease in Tunisia].
Annales de biologie clinique 2007;65(6):647-52.
2007: Irène Maire; Nathalie Guffon; Roseline Froissart
[Current development and usefulness of biomarkers for Gaucher disease follow up].
La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne 2007;28 Suppl 2():S187-92.
2007: L Chkioua; S Khedhiri; Z Jaidane; Selima Ferchichi; S Habib; Roseline Froissart; V Bonnet; M Chaabouni; A Dandana; T Jrad; H Limem; Irène Maire; M Abdelhedi; Sandrine Laradi
[Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2007;14(10):1183-9.
2007: S Flavier; M O Rolland; M Eude; Christine Fédou; Jean-Frédéric Brun; Irène Maire; Jacques Mercier; Eric Raynaud
[Late diagnosis of a McArdle disease's case (type V glycogenosis)].
Annales de biologie clinique 2007;65(5):550-4.
2007: Roseline Froissart; Isabel Moreira Da Silva; Irène Maire
Mucopolysaccharidosis type II: an update on mutation spectrum.
Acta paediatrica (Oslo, Norway : 1992). Supplement 2007;96(455):71-7.
2007: Irène Maire
[Lysosomal storage diseases: functional classification and treatment principles].
Presse médicale (Paris, France : 1983) 2007;36 Spec No 1():1S88-95.
2007: L Chkioua; Selima Ferchichi; S Khedhiri; Sandrine Laradi; A Bibi; D Amira; A Dandana; R Ben Mansour; H Ben Limam; M Chaabouni; Roseline Froissart; Irène Maire; Abdelhedi Miled
[Diagnostic strategy of mucopolysaccharidosis type I in Tunisia].
Annales de biologie clinique 2007;65(2):175-9.
2006: Martin Hrebícek; Lenka Mrázová; Volkan Seyrantepe; Stéphanie Durand; Nicole M Roslin; Lenka Nosková; Hana Hartmannová; Robert Ivanek; Alena Cízkova; Helena Poupetová; Jakub Sikora; Jana Urinovská; Viktor Stranecký; Jirí Zeman; Pierre Lepage; David Roquis; Andrei Verner; Jérôme Ausseil; Clare E Beesley; Irène Maire; B J H M Poorthuis; Jiddeke van de Kamp; Otto P van Diggelen; Ron A Wevers; Thomas J Hudson; T Mary Fujiwara; Jacek Majewski; Kenneth Morgan; Stanislav Kmoch; Alexey V Pshezhetsky
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
American journal of human genetics 2006;79(5):807-19.
2006: Carine Ciron; Nathalie Desmaris; Marie-Anne Colle; Sylvie Raoul; Béatrice Joussemet; Lucie Vérot; Jérôme Ausseil; Roseline Froissart; Françoise Roux; Yan Chérel; Nicolas Ferry; Youenn Lajat; Bertrand Schwartz; marie T vanier; Irène Maire; Marc Tardieu; Philippe Moullier; Jean Michel Heard
Gene therapy of the brain in the dog model of Hurler's syndrome.
Annals of neurology 2006;60(2):204-13.
2006: Shunji Tomatsu; Kazuko Sukegawa; Georgeta G Trandafirescu; Monica A Gutierrez; Tatsuo Nishioka; Seiji Yamaguchi; Tadao Orii; Roseline Froissart; Irène Maire; Amparo Chabas; Alan Cooper; Paola Di Natale; Andreas Gal; Akihiko Noguchi; William S Sly
Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.
European journal of human genetics : EJHG 2006;14(7):838-45.
2006: C Conter; Marie-Odile Rolland; David Cheillan; V Bonnet; Irène Maire; Roseline Froissart
Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.
Journal of inherited metabolic disease 2006;29(1):135-42.
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: Manuel Schiff; Irène Maire; Yves Bertrand; Pierre Cochat; Nathalie Guffon
Long-term follow-up of metachronous marrow-kidney transplantation in severe type II sialidosis: what does success mean?
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2005;20(11):2563-5.
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: Soumeya Bekri; G Armana; D De Ricaud; M Osenda; Irène Maire; E Van Obberghen; Roseline Froissart
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.
Journal of inherited metabolic disease 2005;28(4):601-2.
2004: Jérôme Ausseil; J Concepción Loredo-Osti; Andrei Verner; Corinne Darmond-Zwaig; Irène Maire; B J H M Poorthuis; Otto P van Diggelen; Thomas J Hudson; T Mary Fujiwara; Kenneth Morgan; Alexey V Pshezhetsky
Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8.
Journal of medical genetics 2004;41(12):941-5.
2004: arnaud cressant; Nathalie Desmaris; Lucie Verot; Thomas Bréjot; Roseline Froissart; marie T vanier; Irène Maire; Jean Michel Heard
Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2004;24(45):10229-39.
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: David Cheillan; Sébastien Cognat; Christine Vianey-Saban; Irène Maire; Claude Dorche
[Application of tandem mass spectrometry to neonatal screening of inherited metabolic diseases: focus on present developments].
Annales de biologie clinique 2004;62(3):269-77.
2003: Roseline Froissart; Nathalie Guffon; marie T vanier; Robert J Desnick; Irène Maire
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
Molecular genetics and metabolism 2003;80(3):307-14.
2003: Volkan Seyrantepe; Helena Poupetova; Roseline Froissart; Marie-Thérèse Zabot; Irène Maire; Alexey V Pshezhetsky
Molecular pathology of NEU1 gene in sialidosis.
Human mutation 2003;22(5):343-52.
2003: Gérard Souillet; Nathalie Guffon; Irène Maire; M Pujol; P Taylor; F Sevin; Nathalie Bleyzac; C Mulier; A Durin; K Kebaili; Claire Galambrun; Yves Bertrand; Roseline Froissart; Claude Dorche; Lucette Gebuhrer; C Garin; J Berard; P Guibaud
Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources.
Bone marrow transplantation 2003;31(12):1105-17.
2002: Befekadu Asfaw; Jana Ledvinová; Robert Dobrovolńy; Henk D Bakker; Robert J Desnick; Otto P van Diggelen; Jan G N de Jong; Tamotsu Kanzaki; Amparo Chabas; Irène Maire; Ernst Conzelmann; Detlev Schindler
Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.
Journal of lipid research 2002;43(7):1096-104.
2002: Roseline Froissart; I Moreira da Silva; Nathalie Guffon; Dominique Bozon; Irène Maire
Mucopolysaccharidosis type II--genotype/phenotype aspects.
Acta paediatrica (Oslo, Norway : 1992). Supplement 2002;91(439):82-7.
2001: I Moreira da Silva; Roseline Froissart; H Marques dos Santos; C Caseiro; Irène Maire; Dominique Bozon
Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations.
Clinical genetics 2001;60(4):316-8.
2001: Sandrine Laradi; K Monastiri; Selima Ferchichi; Naoufel Nabli; P Aouini Rea; H Ben Limam; R Ben Mansour; R Bousoffara; M Yacoub; Roseline Froissart; Abdelhedi Miled; Irène Maire
[Clinico-biologic and molecular study of mucopolysaccharidosis in central and southern Tunisia].
Annales de biologie clinique 2001;59(1):100-4.
2000: S Cudry; I Tigaud; Roseline Froissart; V Bonnet; Irène Maire; Dominique Bozon
MPS II in females: molecular basis of two different cases.
Journal of medical genetics 2000;37(10):E29.
1999: S Cudry; Roseline Froissart; O Bouton; Irène Maire; Dominique Bozon
The 2.1-, 5.4- and 5.7-kb transcripts of the IDS gene are generated by different polyadenylation signals.
Biochimica et biophysica acta 1999;1447(1):35-42.
1999: N Bruni; Fabienne Rajas; Sandrine Montano; F Chevalier-Porst; Irène Maire; Gilles Mithieux
Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a.
Annals of human genetics 1999;63(Pt 2):141-6.
1998: Nathalie Guffon; Gérard Souillet; Irène Maire; J Straczek; P Guibaud
Follow-up of nine patients with Hurler syndrome after bone marrow transplantation.
The Journal of pediatrics 1998;133(1):119-25.
1998: Roseline Froissart; Irène Maire; G Millat; S Cudry; A M Birot; V Bonnet; O Bouton; Dominique Bozon
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.
Clinical genetics 1998;53(5):362-8.
1998: G Millat; Roseline Froissart; S Cudry; V Bonnet; Irène Maire; Dominique Bozon
COS cell expression studies of P86L, P86R, P480L and P480Q Hunter's disease-causing mutations.
Biochimica et biophysica acta 1998;1406(2):214-8.
1998: Nathalie Guffon; Roseline Froissart; F Chevalier-Porst; Irène Maire
Mutation analysis in 11 French patients with Fabry disease.
Human mutation 1998;Suppl 1():S288-90.
1997: Raymonde Bouvier; Irène Maire
[Diagnosis of lysosomal storage diseases with fetal presentation].
Annales de pathologie 1997;17(4):277-80.
1997: G Millat; Roseline Froissart; Irène Maire; Dominique Bozon
Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue.
The Biochemical journal 1997;326 ( Pt 1)():243-7.
1997: Roseline Froissart; Irène Maire; V Bonnet; T Levade; Dominique Bozon
Germline and somatic mosaicism in a female carrier of Hunter disease.
Journal of medical genetics 1997;34(2):137-40.
1997: G Millat; Roseline Froissart; Irène Maire; Dominique Bozon
IDS transfer from overexpressing cells to IDS-deficient cells.
Experimental cell research 1997;230(2):362-7.
1996: F Chevalier-Porst; Dominique Bozon; A M Bonardot; N Bruni; Gilles Mithieux; M Mathieu; Irène Maire
Mutation analysis in 24 French patients with glycogen storage disease type 1a.
Journal of medical genetics 1996;33(5):358-60.
1996: M Piraud; Roseline Froissart; Ginette Mandon; A Bernard; Irène Maire
Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis).
Clinica chimica acta; international journal of clinical chemistry 1996;248(2):143-55.
1996: A M Birot; B Delobel; P Gronnier; V Bonnet; Irène Maire; Dominique Bozon
A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient.
Human mutation 1996;7(3):266-8.
1996: A M Birot; O Bouton; Roseline Froissart; Irène Maire; Dominique Bozon
IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient.
Human mutation 1996;8(1):44-50.
1995: Jean-Marc Lessinger; Georges Férard; D Grafmeyer; D Labbé; Irène Maire; Françoise Schiele; A Vassault
Usefulness of reference materials in calibration of enzyme activities.
European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies 1995;33(11):859-64.
1995: Roseline Froissart; G Millat; M Mathieu; Dominique Bozon; Irène Maire
Processing of iduronate 2-sulphatase in human fibroblasts.
The Biochemical journal 1995;309 ( Pt 2)():425-30.
1995: B Mousson; J M Collombet; R Dumoulin; H Carrier; Frédéric Flocard; M Bouzidi; Catherine Godinot; Irène Maire; M Mathieu; S Quard
An abnormal exercise test response revealing a respiratory chain complex III deficiency.
Acta neurologica Scandinavica 1995;91(6):488-93.
1995: S Cudry; O Bouton; Irène Maire; Dominique Bozon
A deletion polymorphism in intron 4 of the IDUA gene.
Molecular and cellular probes 1995;9(2):143.
1995: Jean-Marc Lessinger; Georges Férard; D Grafmeyer; D Labbé; Irène Maire; Françoise Schiele; A Vassault
[Improvement of result coherence in clinical enzymology: multicenter study of gamma-glutamyltransferase, alkaline phosphatase and amylase activities].
Annales de biologie clinique 1995;53(3):147-54.
1995: Nathalie Guffon; G Souillet; Irène Maire; C Dorche; M Mathieu; P Guibaud
Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation.
Journal of inherited metabolic disease 1995;18(2):159-61.
1994: D W Moss; Irène Maire; D H Calam; Rose E Gaines Das; Jean-Marc Lessinger; F Javier Gella; Georges Férard
Reference materials in clinical enzymology: preparation, requirements and practical interests.
Annales de biologie clinique 1994;52(3):189-98.
1993: M Piraud; S Boyer; M Mathieu; Irène Maire
Diagnosis of mucopolysaccharidoses in a clinically selected population by urinary glycosaminoglycan analysis: a study of 2,000 urine samples.
Clinica chimica acta; international journal of clinical chemistry 1993;221(1-2):171-81.
1993: M Piraud; Irène Maire; M Mathieu
Pitfalls of screening for mucopolysaccharidoses by the dimethylmethylene blue test.
Clinical chemistry 1993;39(1):163-4.
1993: J M Collombet; Marie-Therese Zabot; M Vidailhet; Irène Maire; B Echenne; J Floquet; R Dumoulin; M Rimoldi; M Mathieu; B Mousson
[Value of skin fibroblasts in culture for the diagnosis of mitochondrial cell dysfunction. Apropos of 5 cases with cytochrome c oxidase deficiency].
Pédiatrie 1993;48(4):287-95.
1993: Roseline Froissart; J L Blond; Irène Maire; P Guibaud; J J Hopwood; M Mathieu; Dominique Bozon
Hunter syndrome: gene deletions and rearrangements.
Human mutation 1993;2(2):138-40.
1993: Irène Maire; S Epelbaum; M Piraud; Ginette Mandon; R Dumoulin; M Mathieu
Second trimester prenatal diagnosis of Sanfilippo syndrome type C.
Journal of inherited metabolic disease 1993;16(3):584-6.
1992: B Mousson; A Fléchaire; Irène Maire; Frédéric Flocard; A Van Uye; J F Chaulet; H Carrier
[Diagnosis of muscular intolerance during exercise caused by enzyme deficiency in adults].
La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne 1992;13(1):43-8.
1991: B Mousson; Irène Maire; H Carrier; Frédéric Flocard; A Flechaire; M Vidailhet
[Mitochondrial cytopathies].
La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne 1991;12(3):219-26.
1991: Irène Maire; C Baussan; Nicole Moatti; M Mathieu; A Lemonnier
Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience.
Clinical biochemistry 1991;24(2):169-78.
1991: Jean-Louis Touraine; S Laplace; F Rezzoug; Kamel Sanhadji; P Veyron; C Royo; Irène Maire; M T Zabot; marie T vanier; M O Rolland
The place of fetal liver transplantation in the treatment of inborn errors of metabolism.
Journal of inherited metabolic disease 1991;14(4):619-26.
1990: M Piraud; Irène Maire
Interference of amikacin in thin-layer chromatographic screening of urine for oligosaccharidosis.
Clinical chemistry 1990;36(5):809.
1990: H Carrier; Irène Maire; C Vial; G Rambaud; Frédéric Flocard; A Flechaire
Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency.
Acta neuropathologica 1990;81(1):84-8.
1989: S Selmi; Irène Maire; Bernard Rousset
Evidence for the presence of a very high concentration of arylsulfatase A in the pig thyroid: identification of arylsulfatase A subunits as the two major glycoproteins in purified thyroid lysosomes.
Archives of biochemistry and biophysics 1989;273(1):170-9.
1989: C Flandrois; J P Flandrois; D Coullioud; Irène Maire
[Value of enzymuria during antibacterial therapy].
Pathologie-biologie 1989;37(5 Pt 2):657-63.
1989: M Piraud; Irène Maire; M T Zabot
X-linked recessive ichthyosis. Enzymatic diagnosis of affected males and female carriers.
Enzyme 1989;41(4):227-34.
1989: P Veyron; R el Habib; M T Zabot; Irène Maire; M Mathieu; Jean-Louis Touraine
[Lysosomal enzyme deficiency: in vitro correlation of deficient cells using a conditioned medium or by co-culturing with non-deficient cells].
Pathologie-biologie 1989;37(1):35-8.
1989: Dominique Bozon; Irène Maire; A Vialle; Ginette Mandon; P Guibaud; R Gilly
Prenatal diagnosis of cystic fibrosis: experience of two complementary methods.
Journal of inherited metabolic disease 1989;12 Suppl 2():305-7.
1989: C Flandrois; C Lahet; Delphine Feldmann; Irène Maire; P Aymard; M Mathieu
[Optimization of the determination in urine of alanine aminopeptidase, gamma-glutamyltransferase and N acetyl-beta-D-glucosaminidase].
Annales de biologie clinique 1989;47(5):252-60.
1989: P Guibaud; M Auvinet; Dominique Bozon; Irène Maire; V Chambon; F Chevallier; M Mathieu; J André; M P Cordier-Alex; J P Chazalette
[Contribution of molecular biology to the prevention of cystic fibrosis. Experience in Lyon].
Journal de génétique humaine 1989;37(1):43-9.
1989: Irène Maire; Ginette Mandon; M Mathieu
First trimester prenatal diagnosis of glycogen storage disease type III.
Journal of inherited metabolic disease 1989;12 Suppl 2():292-4.
1988: C Flandrois; C Lahet; Delphine Feldmann; J M Gabastou; A Gonnon; Irène Maire
Urinary alanine aminopeptidase assay improved as result of multivariate response-surface analysis.
Clinical chemistry 1988;34(5):954-7.
1988: Priscille Divry; Irène Maire; M Mathieu
[Biological diagnosis of hereditary metabolic diseases. From selective screening to the mutant-cell bank].
Annales de biologie clinique 1988;46(6):381-6.
1986: C Lahet; A Vialle; Irène Maire; B Parrin; J P Steghens; M Mathieu
Creatine kinase: reassessment of optimal concentrations for adenosine-5'-diphosphate and magnesium.
Clinical chemistry 1986;32(2):271-4.
1986: C Flandrois; B Gravagna; Irène Maire; M Mathieu
[Enzymuria].
Annales de biologie clinique 1986;44(5):486-90.
1984: M Piraud; M T Zabot; Irène Maire
Steroid sulphatase deficiency. Steroid sulphatase and arylsulphatase C determination in normal and affected fibroblasts.
Journal of inherited metabolic disease 1984;7 Suppl 2():157-8.
1983: P Guibaud; Irène Maire; Marie-Therese Zabot; J J Louis; R Rousson; J F Metais
[Morquio syndrome moderated by beta galactosidase deficiency. Mucopolysaccharidosis (type IV B) or oligosaccharidosis].
Annales de pédiatrie 1983;30(9):681-6.
1983: J J Louis; Irène Maire; M Hermier; A Nicolas; P Guibaud
[Case of mucolipidosis type I with a primary alpha-D-neuraminidase deficiency].
Journal de génétique humaine 1983;31(2):79-91.
1982: L Sann; Irène Maire; C Lahet; M Bethenod
[Serum alkaline phosphatases in very low-birth-weight premature infants].
Pédiatrie 1982;37(3):177-84.
1980: Irène Maire; Ginette Mandon; M T Zabot; M Mathieu; P Guibaud
Beta-glucuronidase deficiency: enzyme studies in an affected family and prenatal diagnosis.
Journal of inherited metabolic disease 1980;2(2):29-34.