Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. [PDF]
, 2020 Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme.
Couce, Maria L. +6 more
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Case Reports, 2019 Introduction: Pompe disease is characterized by the deficiency of the acid alfa glucosidase enzyme, which leads to a glycogen accumulation mainly in cardiac and skeletal muscles.
Thomas Torres-Cuenca +2 more
doaj +1 more source
Presenting signs and patient co-variables in Gaucher disease : outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative [PDF]
, 2019 © 2018 The Authors. Internal Medicine Journal by Wiley Publishing Asia Pty Ltd on behalf of Royal Australasian College of Physicians.Background: Gaucher disease (GD) presents with a range of signs and symptoms.
Belmatoug , N +24 more
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Научно-практическая ревматология, 2004 Objective. To improve quality of diagnosis of systemic lupus erythematosus (SLE) and systemic sclerosis (SS). Material and methods. 30 pts with SLE and 30 with SS were included.
LA Zborovskaya +3 more
doaj +1 more source
Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study. [PDF]
, 2017 Efficacy and safety of elosulfase alfa enzyme replacement therapy (ERT) were assessed in an open-label, phase 2, multi-national study in Morquio A patients aged ≥5 years unable to walk ≥30 meters in the 6-min walk test.
Berger, Kenneth I +11 more
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Recombinant human G6PD for quality control and quality assurance of novel point-of-care diagnostics for G6PD deficiency. [PDF]
PLoS ONE, 2017 BACKGROUND:A large gap for the support of point-of-care testing is the availability of reagents to support quality control (QC) of diagnostic assays along the supply chain from the manufacturer to the end user. While reagents and systems exist to support
Maria Kahn +13 more
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Evaluation of two laboratory methods for the diagnosis of hydatidosis
Saúde & Tecnologia, 2015 Hydatidosis, also known as hydatid cyst, is caused by the larval stages of the parasite Echinococcus granulosus. Its diagnostic relies mainly on clinical findings, epidemiology and imaging techniques supported by serological tests.
Generosa Batista +4 more
doaj +1 more source
Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population. [PDF]
, 2019 Mucopolysaccharidosis (MPS) VII is an ultra-rare, progressively debilitating, life-threatening lysosomal disease caused by deficiency of the enzyme, β-glucuronidase. Vestronidase alfa is an approved enzyme replacement therapy for MPS VII. UX003-CL301 was
Bauer, Mislen +7 more
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Macro-Aspartate Aminotransferase and Its Laboratory Detection: A Case Report
Acta Medica Lituanica, 2023 Background. Increased enzyme activity in human blood serum is usually associated with the existence of disease. On the other hand, enzyme activity can also be elevated in the presence of benign conditions, such as macro-enzymes. Macro-enzymes could lead
Goda Aleknavičiūtė-Valienė +3 more
doaj +3 more sources
Two clinical cases of glutaric aciduria type I in the Republic of Bashkortostan
Анналы клинической и экспериментальной неврологии, 2020 Glutaric aciduria type I is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the glutaryl-CoA-dehydrogenase enzyme. A lack of this enzyme leads to the accumulation of glutaric and 3-OH-glutaric (3-hydroxyglutaric) acids ...
Elena V. Saifullina +6 more
doaj +1 more source