Results 131 to 140 of about 1,760 (179)

Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA. [PDF]

Int J Mol Sci
Ago Y, Khan S, Klipner K, Bradford A, Tomatsu S.   +4 more
europepmc   +1 more source

A Rare Case of Morquio Syndrome in Palestine: Clinical, Radiological, and Genetic Insights. [PDF]

Cureus
Farah RE, Farah RE, Ayasa IW, Abuisneina S.   +3 more
europepmc   +1 more source

Systematic Analysis of Multiple Imaging Modalities in Infants Diagnosed with Mucopolysaccharidosis by Newborn Screening. [PDF]

Diagnostics (Basel)
Lee CL, Chang SW, Fang HH, Chuang CK, Chiu HC, Chang YH, Tu YR, Lo YT, Wu JY, Lin HY, Lin SP.   +10 more
europepmc   +1 more source

Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life. [PDF]

Ital J Pediatr
Zhang W, Huang Y, Su X, Zhao X, Sheng H, Liang C, Jiang M, Zeng C, Cai Y, Lin Y, Shao Y, Liu S, Jiang H, Liu L.   +13 more
europepmc   +1 more source

N-Acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples

Clinica Chimica Acta, 2007
Mucopolysaccharidosis type IVA (MPS IVA; Morquio syndrome) is a lysosomal storage disorder caused by a deficiency in the activity of the lysosomal hydrolase N-acetylgalactosamine-6-sulfatase (GALNS). MPS IVA patients can present with severe myelopathy, hearing loss, heart valve involvement, short trunk/dwarfism and corneal clouding.
Doug A Brooks
exaly   +5 more sources

Intellectual and neurological functioning in Morquio syndrome (MPS IVa)

Journal of Inherited Metabolic Disease, 2012
AbstractMucopolysaccharidosis type IVa (MPS IVa, Morquio syndrome OMIM #253000) is a lysosomal storage disease caused by deficiency in N‐acetylgalactosamine‐6‐sulfatase (GALNS, EC 3.1.6.4; encoded by GALNS gene at 16q24.3). Unlike other MPS disorders involving excessive heparan and dermatan sulfate, Morquio syndrome has not been associated with ...
J E, Davison, S, Kearney, J, Horton, K, Foster, A C, Peet, C J, Hendriksz   +5 more
openaire   +3 more sources

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Morquio syndrome (MPS IVA) and hypophosphatasia in a Hutterite kindred

American Journal of Medical Genetics Part A, 1985
AbstractA patient is described who has Morquio syndrome (MPS IVA). He is a member of the Hutterite Brethren and genealogic analysis discloses a high inbreeding coefficient for the proband. The proband's sibship is segregating two autosomal recessive disorders, ie, MPS IVA and infantile hypophosphatasia.
F F Snyder, G A Machin, J R Toone
exaly   +3 more sources

Evaluation of Urinary Keratan Sulfate Disaccharides in Mps Iva Patients Using UPLC–MS/MS

Bioanalysis, 2016
Glycosaminoglycan analysis for the diagnosis of Morquio patients has been daunting due to lack of sensitivity/specificity of the dimethylmethylene blue-based spectrophotometry methodology, routinely used by several clinical laboratories. MS methods have been devised for quantification of keratan sulfate for Morquio patients, but some used tributylamine
Christiane Auray-Blais, Pamela Lavoie, Bruno Maranda   +2 more
exaly   +3 more sources

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management

International Journal of Molecular Sciences, 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.
Kazuki Sawamoto, JOSÉ V Alvarez, Maria L Couce   +2 more
exaly   +3 more sources

Morquio A (MPS IVA) Syndrome

Mary C Theroux, Sabina Dicindio, Lauren W Averill   +2 more
exaly   +2 more sources