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在“Elsevier电子期刊”中，命中：27条，耗时：0.0339849 秒

在所有数据库中总计命中：1条

1.Lysosomal acid lipase deficiency: Expanding differential diagnosis

作者：Vassili Valayannopoulos^a ; ^{vassilival.boston@gmail.com} ; Eugen Mengel^b ; Anais Brassier^a ; Gregory Grabowski^c

关键词：Lysosomal acid lipase deficiency ; Lysosomal storage disease ; Microvesicular steatosis ; Dyslipidemia ; Enzyme replacement therapy ; Hepatomegaly

刊名：Molecular Genetics and Metabolism

出版年：2017

2.Effect of sebelipase alfa on survival to 3 years of age and liver function in infants with rapidly progressive lysosomal acid lipase deficiency

作者：Mark Friedman^a ; Simon A. Jones^b ; Anais Brassier^c ; Joanne Hughes^d ; Dominique Plantaz^e ; Roshni Vara^f ; Catherine Breen^b ; J. Jay Gargus^g ; Sachin Marulkar^a ; Vassili Valayannopoulos^c ; ^h

刊名：Molecular Genetics and Metabolism

出版年：2017

3.UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses

作者：Christiane Auray-Blais^a ; ^{christiane.auray-blais@usherbrooke.ca" class="auth_mail" title="E-mail the corresponding author} ; Pamela Lavoie^a ; Shunji Tomatsu^b ; Vassili Valayannopoulos^c ; John J. Mitchell^d ; Julian Raiman^e ; Maxime Beaudoin^a ; Bruno Maranda^a ; Joe T.R. Clarke^e

关键词：Mucopolysaccharidoses ; Tandem mass spectrometry ; Glycosaminoglycans ; Dermatan sulfate ; Heparan sulfate ; Keratan sulfate ; Chondroitin sulfate

刊名：Analytica Chimica Acta

出版年：2016

4.Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency: 2-year follow-up data

作者：Simon A. Jones^a ; Anais Brassier^b ; Joanne Hughes^c ; Dominique Plantaz^d ; Roshni Vara^e ; Catherine Breen^a ; J. Jay Gargus^f ; Vassili Valayannopoulos^b

刊名：Molecular Genetics and Metabolism

出版年：2016

5.Safety findings from 3 trials of treatment with sebelipase alfa in children and adults with lysosomal acid lipase deficiency

作者：Mark Friedman^a ; Vassili Valayannopoulos^b ; Carmen Camarena Grande^c ; Alejandra Consuelo Sanchez^d ; John Kane^e ; Maria Kostyleva^f ; Anna Tylki-Szymanska^g ; Etienne Sokal^h ; Reena Sharmaⁱ ; Sandra Rojas-Caro^a ; Nina Wolfendale^a ; Barbara K. Burton^j

刊名：Molecular Genetics and Metabolism

出版年：2016

6.The French Gaucher Disease Registry: Clinical characteristics, complications and treatment of 616 patients

作者：Jerome Stirnemann^a ; Dalil Hamroun^b ; Monia Bengherbia^c ; Karima Yousfi^c ; Juliette Berger^d ; Anais Brassier^e ; Christine Broissand^e ; Catherine Caillaud^e ; Fabrice Camou^f ; Florence Dalbies^g ; Dries Dobbelaere^h ; Roseline Froissartⁱ ; Bernard Grosbois^j ; Vanessa Leguy-Seguin^k ; Thierry Levade^l ; Agathe Masseau^m ; Christian Roseⁿ ; Christine Serratrice^a ; Vassili Valayannopoulos^e ; Bruno Fantin^c ; Marc Berger^d ; Thierry Billette de Villemeur^o ; Nadia Belmatoug^c

刊名：Molecular Genetics and Metabolism

出版年：2016

7.Obstructive sleep apnea syndrome after hematopoietic stem cell transplantation in children with mucopolysaccharidosis type I

作者：Vassili Valayannopoulos^a ; Anais Brassier^a ; Alessandro Ameddeo^a ; Benedicte Neven^a ; Catherine Caillaud^a ; Allel Chabli^a ; Marta Fernandez-Bolanos^a ; Jorge Olmo^a ; Johan Moreau^b ; Brigitte Fauroux^a

刊名：Molecular Genetics and Metabolism

出版年：2016

8.Obstructive sleep apnea syndrome after hematopoietic stem cell transplantation in children with mucopolysaccharidosis type I

关键词：OSAS ; obstructive sleep apnea syndrome ; MPS I ; mucopolysaccharidosis I ; HSCT ; hematopoietic stem cell transplantation ; PSG ; polysomnography ; AHI ; apnea&ndash ; hypopnea index ; GAG ; glycosaminoglycan ; IDUA ; a-L-iduronidase ; MPS I-H ; Hurler syndrome ; MPS I-S ; Scheie syndrome ; SDB ; sleep disordered breathing ; ERT ; enzyme replacement therapy ; DQ ; developmental quotient ; IQ ; intellectual quotient ; WPPSI-R ; Wechsler Preschool and Primary Scale of Intelligence ; WISC III ; Wechsler Intelligence Scale for C

刊名：Molecular Genetics and Metabolism

出版年：2015

9.Clinical effect of sebelipase alfa on survival and growth in infants with lysosomal acid lipase deficiency (Wolman disease)

作者：Vassili Valayannopoulos ; Dominique Plantaz ; Roshni Vara ; Stephen Eckert ; Radhika Tripuraneni ; Eugene Schneider ; Anthony G. Quinn ; Kim-Hanh Le Quan Sang ; Ana茂s Brassier ; Jean-Baptiste Arnoux ; Fiona White ; Catherine Breen ; Simon A. Jones

刊名：Molecular Genetics and Metabolism

出版年：February, 2014

10.Long-term clinical effect and safety of sebelipase alfa in adults with lysosomal acid lipase deficiency

作者：Chester B. Whitley ; Vassili Valayannopoulos ; V臎ra Malinov谩 ; Reena Sharma ; Chris Bourdon ; Simeon A. Boyadjiev ; Bruce Kessler ; Christopher Twelves ; Radhika Tripuraneni ; Stephen Eckert ; Eugene Schneider ; Anthony G. Quinn

刊名：Molecular Genetics and Metabolism

出版年：February, 2014

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