Page last updated: 2024-08-23

acetylgalactosamine and Eccentro-Osteochondrodysplasia

acetylgalactosamine has been researched along with Eccentro-Osteochondrodysplasia in 8 studies

Research

Studies (8)

TimeframeStudies, this research(%)All Research%
pre-19903 (37.50)18.7374
1990's2 (25.00)18.2507
2000's0 (0.00)29.6817
2010's1 (12.50)24.3611
2020's2 (25.00)2.80

Authors

AuthorsStudies
Cho, SY; Jang, JH; Kim, SM; Lee, SY; Noh, ES; Park, HD; Park, JH1
Azam, M; Ghafoor, S; Kannu, P; Qamar, R; Silveira, KDC1
Cameron, SA; Furneaux, RH; Rendle, PM; Toms, S; Zubkova, OV1
Caskey, CT; Di Ferrante, DT; Di Ferrante, N; Donnelly, PV; Ginsberg, LC1
Farooqui, AA1
Cooper, A; Fukuda, S; Iwata, H; Kato, Z; Kondo, N; Orii, T; Rezvi, GM; Shimozawa, N; Sukegawa, K; Suzuki, Y; Tomatsu, S; Wraith, JE; Yamada, N; Yamagishi, A1
Dorfman, A; Horwitz, AL1
Fukuda, S; Hanyu, Y; Hori, T; Iwata, H; Masue, M; Nakashima, Y; Ogawa, T; Sukegawa, K; Tomatsu, S; Yamagishi, A1

Reviews

1 review(s) available for acetylgalactosamine and Eccentro-Osteochondrodysplasia

ArticleYear
Sulfatases, sulfate esters and their metabolic disorders.
    Clinica chimica acta; international journal of clinical chemistry, 1980, Jan-31, Volume: 100, Issue:3

    Topics: Acetylgalactosamine; Acetylglucosamine; Animals; Brain; Cattle; Cerebrosides; Esters; Estrone; Female; Heparin; Humans; Iduronate Sulfatase; Leukodystrophy, Metachromatic; Liver; Male; Metabolism, Inborn Errors; Molecular Weight; Mucopolysaccharidoses; Mucopolysaccharidosis III; Mucopolysaccharidosis IV; Placenta; Rabbits; Rats; Sulfatases; Sulfates

1980

Other Studies

7 other study(ies) available for acetylgalactosamine and Eccentro-Osteochondrodysplasia

ArticleYear
A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re-evaluating primer sequences.
    Annals of human genetics, 2022, Volume: 86, Issue:6

    Topics: Acetylgalactosamine; Child, Preschool; Chondroitinsulfatases; Codon, Nonsense; Glycosaminoglycans; Humans; Keratan Sulfate; Male; Mucopolysaccharidosis IV

2022
Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.
    Genes, 2022, Sep-27, Volume: 13, Issue:10

    Topics: Acetylgalactosamine; Chondroitinsulfatases; Consanguinity; Exome; Exome Sequencing; Humans; Mucopolysaccharidosis IV; Mutation; Pakistan

2022
Synthesis of
    Journal of labelled compounds & radiopharmaceuticals, 2019, Volume: 62, Issue:2

    Topics: Acetylgalactosamine; Carbon Isotopes; Keratan Sulfate; Mass Spectrometry; Molecular Diagnostic Techniques; Mucopolysaccharidosis IV

2019
Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses.
    Science (New York, N.Y.), 1978, Jan-06, Volume: 199, Issue:4324

    Topics: Acetylgalactosamine; Acetylglucosamine; Cells, Cultured; Child, Preschool; Chondroitin Sulfates; Chondroitinsulfatases; Fibroblasts; Galactitol; Heparitin Sulfate; Humans; Hydrogen-Ion Concentration; Keratan Sulfate; Male; Mucopolysaccharidoses; Mucopolysaccharidosis III; Mucopolysaccharidosis IV; Skin; Substrate Specificity; Sulfatases

1978
Mucopolysaccharidosis IVA: a comparative study of polymorphic DNA haplotypes in the Caucasian and Japanese populations.
    Journal of inherited metabolic disease, 1996, Volume: 19, Issue:3

    Topics: Acetylgalactosamine; Asian People; Haplotypes; Humans; Japan; Mucopolysaccharidosis IV; Polymorphism, Restriction Fragment Length; Sulfatases; White People

1996
The enzymic defect in Morquio's disease: the specificity of N-acetylhexosamine sulfatases.
    Biochemical and biophysical research communications, 1978, Feb-28, Volume: 80, Issue:4

    Topics: Acetylgalactosamine; Acetylglucosamine; Cells, Cultured; Fibroblasts; Glucuronidase; Humans; Kinetics; Mucopolysaccharidosis IV; Skin; Substrate Specificity; Sulfatases

1978
Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
    The Journal of clinical investigation, 1992, Volume: 90, Issue:3

    Topics: Acetylgalactosamine; Adult; Base Sequence; Chondroitinsulfatases; Exons; Female; Humans; Molecular Sequence Data; Mucopolysaccharidosis IV; Mutation; Polymerase Chain Reaction

1992