Literature DB >> 11274042

Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis.

N A Chamoles1, M Blanco, D Gaggioli.   

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Year:  2001        PMID： 11274042

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  28 in total

Review 1.  Newborn screening for neuropathic lysosomal storage disorders.

Authors:  Wuh-Liang Hwu; Yin-Hsiu Chien; Ni-Chung Lee
Journal:  J Inherit Metab Dis       Date:  2010-06-08       Impact factor: 4.982

Review 2.  Innovations in health and demographic surveillance systems to establish the causal impacts of HIV policies.

Authors:  Kobus Herbst; Matthew Law; Pascal Geldsetzer; Frank Tanser; Guy Harling; Till Bärnighausen
Journal:  Curr Opin HIV AIDS       Date:  2015-11       Impact factor: 4.283

Review 3.  Newborn Screening for Lysosomal Storage Disorders.

Authors:  Roy W A Peake; Olaf A Bodamer
Journal:  J Pediatr Genet       Date:  2016-12-02

Review 4.  Emptying the stores: lysosomal diseases and therapeutic strategies.

Authors:  Frances M Platt
Journal:  Nat Rev Drug Discov       Date:  2017-11-17       Impact factor: 84.694

Review 5.  Glycosaminoglycans detection methods: Applications of mass spectrometry.

Authors:  Francyne Kubaski; Harumi Osago; Robert W Mason; Seiji Yamaguchi; Hironori Kobayashi; Mikako Tsuchiya; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2016-09-28       Impact factor: 4.797

6.  Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots.

Authors:  Dae-Hyun Ko; Sun-Hee Jun; Kyoung Un Park; Sang Hoon Song; Jin Q Kim; Junghan Song
Journal:  J Inherit Metab Dis       Date:  2011-02-22       Impact factor: 4.982

Review 7.  Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.

Authors:  Monique Piraud; Magali Pettazzoni; Pamela Lavoie; Séverine Ruet; Cécile Pagan; David Cheillan; Philippe Latour; Christine Vianey-Saban; Christiane Auray-Blais; Roseline Froissart
Journal:  J Inherit Metab Dis       Date:  2018-03-19       Impact factor: 4.982

8.  Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience.

Authors:  Karen B Müller; Mayra Db Rodrigues; Vanessa G Pereira; Ana M Martins; Vânia D'Almeida
Journal:  Diagn Pathol       Date:  2010-09-29       Impact factor: 2.644

9.  Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I.

Authors:  Sophie Blanchard; Martin Sadilek; C Ronald Scott; Frantisek Turecek; Michael H Gelb
Journal:  Clin Chem       Date:  2008-12       Impact factor: 8.327

10.  A review of treatment of Pompe disease in infants.

Authors:  Yin-Hsiu Chien; Wuh-Liang Hwu
Journal:  Biologics       Date:  2007-09
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