Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders

Advances in Biological Chemistry

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ISSN Online: 2162-2191
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"Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders"
written by Romina Ceci, Pablo N. de Francesco, Juan M. Mucci, Lorena N. Cancelarich, Carlos A. Fossati, Paula A. Rozenfeld,
published by Advances in Biological Chemistry, Vol.1 No.3, 2011

has been cited by the following article(s):

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[1]	Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis
	JIMD reports, 2022

[2]	Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?
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[3]	Lysosomal acid lipase deficiency: A rare inherited dyslipidemia but potential ubiquitous factor in the development of atherosclerosis and fatty liver disease.
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[4]	Diagnóstico temprano de enfermedad de Gaucher mediante detección de manifestaciones óseas.
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[6]	Estudio de la fisiopatología de las alteraciones óseas asociadas a la enfermedad de Gaucher
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[7]	Lysosomal Acid Lipase: Can it be a New Non-Invasive Serum Biomarker of Cryptogenic Liver Fibrosis and Cirrhosis?
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[8]	Fabry pedigree analysis: A successful program for targeted genetic approach
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[9]	Diagnostic methods for Lysosomal Storage Disease
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[10]	Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders
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[11]	Can it be a New Non-Invasive Serum Biomarker of Cryptogenic Liver Fibrosis and Cirrhosis?
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[12]	Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI
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[13]	Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study
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[14]	A Relative Deficiency of Lysosomal Acid Lypase Activity Characterizes Non-Alcoholic Fatty Liver Disease
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[15]	UKRAІNІAN REFERENCE VALUES FОR LYSОSОMAL ENZYMES ACTІVІTІES ІN DRІED BLООD SPОTS-THE EFFECT ОF HEMATОCRІT AND NUMBER ОF WHІTE …
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[16]	Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI.
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[17]	Enfermedad de Fabry. Discapacitante y subdiagnosticada
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[18]	Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders
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[19]	Lysosomal Acid Lipase Activity Is Reduced Both in Cryptogenic Cirrhosis and in Cirrhosis of Known Etiology
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[20]	Enfermedad de Fabry en Argentina
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[21]	UKRAІNІAN REFERENCE VALUES FОR LYSОSОMAL ENZYMES ACTІVІTІES ІN DRІED BLООD SPОTS-THE EFFECT ОF HEMATОCRІT AND NUMBER ОF WHІTE …
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[22]	UKRAІNІAN REFERENCE VALUES FОR LYSОSОMAL ENZYMES ACTІVІTІES ІN DRІED BLООD SPОTS-THE EFFECT ОF HEMATОCRІT AND NUMBER ОF …
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[23]	The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings
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[24]	The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina Genotype, Experiences, Anecdotes, and New Learnings
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[25]	Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease
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[26]	Validity of β-D-glucosidase activity measured in dried blood samples for detection of potential Gaucher disease patients
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[27]	Ultramicro-fluorometric assay for the diagnosis of Gaucher disease in dried blood spots on filter paper
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[28]	Ultramicro-fluorometric assay for the diagnosis of Gaucher disease in dried blood spots on filter paper.
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[1]	Lysosomal acid lipase deficiency: A rare inherited dyslipidemia but potential ubiquitous factor in the development of atherosclerosis and fatty liver disease Frontiers in Genetics, 2022 DOI:10.3389/fgene.2022.1013266

[2]	Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis JIMD Reports, 2022 DOI:10.1002/jmd2.12313

[3]	Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1 Orphanet Journal of Rare Diseases, 2022 DOI:10.1186/s13023-022-02573-6

[4]	Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis JIMD Reports, 2022 DOI:10.1002/jmd2.12313

[5]	Lysosomal Acid Lipase: Can it be a New Non-Invasive Serum Biomarker of Cryptogenic Liver Fibrosis and Cirrhosis? Annals of Hepatology, 2019 DOI:10.5604/01.3001.0012.7865

[6]	Fabry pedigree analysis: A successful program for targeted genetic approach Molecular Genetics & Genomic Medicine, 2019 DOI:10.1002/mgg3.794

[7]	Fabry pedigree analysis: A successful program for targeted genetic approach Molecular Genetics & Genomic Medicine, 2019 DOI:10.1002/mgg3.794

[8]	Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders ACS Central Science, 2018 DOI:10.1021/acscentsci.8b00668

[9]	Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders ACS Central Science, 2018 DOI:10.1021/acscentsci.8b00668

[10]	A Relative Deficiency of Lysosomal Acid Lypase Activity Characterizes Non-Alcoholic Fatty Liver Disease International Journal of Molecular Sciences, 2017 DOI:10.3390/ijms18061134

[11]	Screening Fabry’s disease in chronic kidney disease patients not on dialysis: a multicenter study Renal Failure, 2017 DOI:10.1080/0886022X.2016.1254656

[12]	Lysosomal Acid Lipase Activity Is Reduced Both in Cryptogenic Cirrhosis and in Cirrhosis of Known Etiology PLOS ONE, 2016 DOI:10.1371/journal.pone.0156113

[13]	JIMD Reports, Volume 31 JIMD Reports, 2016 DOI:10.1007/8904_2016_548

[14]	The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina Journal of Inborn Errors of Metabolism and Screening, 2015 DOI:10.1177/2326409815613806

[15]	Validity of β-d-glucosidase activity measured in dried blood samples for detection of potential Gaucher disease patients Clinical Biochemistry, 2014 DOI:10.1016/j.clinbiochem.2014.06.005

[16]	Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease Journal of Human Genetics, 2014 DOI:10.1038/jhg.2014.5

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