Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?

Autor: Peter Vreken, J. L. M. Keulemans, Groener Je, Henk D. Bakker, van Diggelen Op, de Sonnaville Ml, N. G. G. M. Abeling

Publikováno v: European journal of human genetics, 9(2), 91-96. Nature Publishing Group

Two new individuals with alpha-NAGA deficiency are presented. The index patient, 3 years old, has congenital cataract, slight motor retardation and secondary demyelinisation. Screening of his sibs revealed an alpha-NAGA deficiency in his 7-year-old h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bb78c63261c29d63f3692de585cff4c
https://doi.org/10.1038/sj.ejhg.5200598

Hypercholesterolaemia and hepatosplenomegaly: two manifestations of cholesteryl ester storage disease.

Autor: Sjouke B; Department of Vascular Medicine, Academic Medical Center, Amsterdam, the Netherlands., van der Stappen JW, Groener JE, Pepping A, Wevers RA, Gouw A, Dikkeschei LD, Mijnhout S, Hovingh GK, Alleman MA

Publikováno v: The Netherlands journal of medicine [Neth J Med] 2015 Mar; Vol. 73 (3), pp. 129-32.

Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry.

Autor: Gold H; Leiden Institute of Chemistry, Leiden University, Leiden, The Netherlands., Mirzaian M, Dekker N, Joao Ferraz M, Lugtenburg J, Codée JD, van der Marel GA, Overkleeft HS, Linthorst GE, Groener JE, Aerts JM, Poorthuis BJ

Publikováno v: Clinical chemistry [Clin Chem] 2013 Mar; Vol. 59 (3), pp. 547-56. Date of Electronic Publication: 2012 Dec 12.

Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.

Autor: Hollak CE; Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands. c.e.hollak@amc.uva.nl, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E, Wevers RA, Mannens M, Aerts JM, Meersseman W, Akkerman E, Niezen-Koning KE, Mulder MF, Visser G, Wijburg FA, Lefeber D, Poorthuis BJ

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2012 Nov; Vol. 107 (3), pp. 526-33. Date of Electronic Publication: 2012 Jun 30.

Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome.

Autor: Rombach SM; Department of Endocrinology and Metabolism, Division of Internal Medicine, Academic Medical Center, Amsterdam, The Netherlands., Aerts JM, Poorthuis BJ, Groener JE, Donker-Koopman W, Hendriks E, Mirzaian M, Kuiper S, Wijburg FA, Hollak CE, Linthorst GE

Publikováno v: PloS one [PLoS One] 2012; Vol. 7 (10), pp. e47805. Date of Electronic Publication: 2012 Oct 19.