Literature DB >> 11432396

Fabry disease: enzymatic diagnosis in dried blood spots on filter paper.

N A Chamoles, M Blanco, D Gaggioli.   

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Year:  2001        PMID： 11432396     DOI： 10.1016/s0009-8981(01)00478-8

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  65 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

2.  Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.

Authors:  Yijun Li; C Ronald Scott; Nestor A Chamoles; Ahmad Ghavami; B Mario Pinto; Frantisek Turecek; Michael H Gelb
Journal:  Clin Chem       Date:  2004-08-03       Impact factor: 8.327

3.  Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI.

Authors:  Min-Ju Chan; Hsuan-Chieh Liao; Michael H Gelb; Chih-Kuang Chuang; Mei-Ying Liu; Hsiao-Jan Chen; Shu-Min Kao; Hsiang-Yu Lin; You-Hsin Huang; Arun Babu Kumar; Naveen Kumar Chennamaneni; Nagendar Pendem; Shuan-Pei Lin; Chuan-Chi Chiang
Journal:  J Pediatr       Date:  2018-11-06       Impact factor: 4.406

4.  Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS).

Authors:  Tomas Palecek; Jitka Honzikova; Helena Poupetova; Hana Vlaskova; Petr Kuchynka; Lubor Golan; Sudheera Magage; Ales Linhart
Journal:  J Inherit Metab Dis       Date:  2013-10-31       Impact factor: 4.982

5.  Fabry disease in latin america: data from the fabry registry.

Authors:  J Villalobos; J M Politei; A M Martins; G Cabrera; H Amartino; R Lemay; S Ospina; S Suarez Ordoñez; C Varas
Journal:  JIMD Rep       Date:  2012-07-06

6.  Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process.

Authors:  E J Langereis; I E T van den Berg; D J J Halley; B J H M Poorthuis; F M Vaz; J H J Wokke; G E Linthorst
Journal:  JIMD Rep       Date:  2012-10-30

Review 7.  Newborn Screening for Lysosomal Storage Disorders.

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

Review 8.  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

9.  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

10.  Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Authors:  Wuh-Liang Hwu; Yin-Hsiu Chien; Ni-Chung Lee; Shu-Chuan Chiang; Robert Dobrovolny; Ai-Chu Huang; Hui-Ying Yeh; May-Chin Chao; Shio-Jean Lin; Teruo Kitagawa; Robert J Desnick; Li-Wen Hsu
Journal:  Hum Mutat       Date:  2009-10       Impact factor: 4.878
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