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Mucolipidosis type III, a series of adult patients.
Oussoren E, van Eerd D, Murphy E, Lachmann R, van der Meijden JC, Hoefsloot LH, Verdijk R, Ruijter GJG, Maas M, Hollak CEM, Langendonk JG, van der Ploeg AT, Langeveld M. Oussoren E, et al. J Inherit Metab Dis. 2018 Sep;41(5):839-848. doi: 10.1007/s10545-018-0186-z. Epub 2018 Apr 27. J Inherit Metab Dis. 2018. PMID: 29704188 Free PMC article.
BACKGROUND: Mucolipidosis type III alpha/beta or gamma (MLIII) are rare autosomal recessive diseases, in which reduced activity of the enzyme UDP-N-acetyl glucosamine-1-phosphotransferase (GlcNAc-PTase) leads to intra-lysosomal accumulation of different substrates. ...METH …
BACKGROUND: Mucolipidosis type III alpha/beta or gamma (MLIII) are rare autosomal recessive diseases, in which reduced activity of th …
Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.
Fernandes SA, Cooper GE, Gibson RA, Kishnani PS. Fernandes SA, et al. Mol Genet Metab. 2020 Nov;131(3):299-305. doi: 10.1016/j.ymgme.2020.10.004. Epub 2020 Oct 10. Mol Genet Metab. 2020. PMID: 33317799 Free PMC article.
It is caused by a deficiency in enzyme phosphorylase kinase (PhK), a complex, hetero-tetrameric enzyme comprised of four subunits - alpha, beta, gamma, and delta - each with tissue specific isoforms encoded by different genes. Until the recent availability of gene panels a …
It is caused by a deficiency in enzyme phosphorylase kinase (PhK), a complex, hetero-tetrameric enzyme comprised of four subunits - alpha, b …
Effects of immune modulation therapy in the first Croatian infant diagnosed with Pompe disease: a 3-year follow-up study.
Markic J, Polic B, Stricevic L, Metlicic V, Kuzmanic-Samija R, Kovacevic T, Ivkosic IE, Mestrovic J. Markic J, et al. Wien Klin Wochenschr. 2014 Feb;126(3-4):133-7. doi: 10.1007/s00508-013-0475-3. Epub 2013 Dec 14. Wien Klin Wochenschr. 2014. PMID: 24337590
Pompe disease is a storage disorder characterized by deficient or absent activity of the enzyme acid alpha-glucosidase. ...High antibody titers complicate therapeutic management, and those patients have a worse clinical outcome of enzyme replacement therapy (ERT).Four year …
Pompe disease is a storage disorder characterized by deficient or absent activity of the enzyme acid alpha-glucosidase. ...High antib …