Literature DB >> 11673388

Retrospective diagnosis of GM1 gangliosidosis by use of a newborn-screening card.

N A Chamoles, M B Blanco, S Iorcansky, D Gaggioli, N Spécola, C Casentini.   

Abstract

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Year:  2001        PMID： 11673388

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


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  6 in total

Review 1.  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 2.  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

3.  Evaluation of α-iduronidase in dried blood spots is an accurate tool for mucopolysaccharidosis I diagnosis.

Authors:  Karen B Müller; Vanessa G Pereira; Ana M Martins; Vânia D'Almeida
Journal:  J Clin Lab Anal       Date:  2011       Impact factor: 2.352

Review 4.  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

5.  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

6.  Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases.

Authors:  Chunli Yu; Qin Sun; Hui Zhou
Journal:  N Am J Med Sci (Boston)       Date:  2013
  6 in total

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