Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

Autor: Christine R. Kaneski, Raphael Schiffmann, M. Abu Asab, M. Timmons, M. T. Vanier, Stephanie B. Seminara, John D. Heiss, M.S. van der Knaap, G. C. Zirzow, Maria Tsokos, Kondi Wong

Publikováno v: Timmons, M, Tsokos, M, Asab, M A, Seminara, S B, Zirzow, G C, Kaneski, C R, Heiss, J D, Van Der Knaap, M S, Vanier, M T, Schiffmann, R & Wong, K 2006, ' Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia ', Neurology, vol. 67, no. 11, pp. 2066-2069 . https://doi.org/10.1212/01.wnl.0000247666.28904.35
Neurology, 67(11), 2066-2069. Lippincott Williams and Wilkins

We identified four unrelated patients (three female, one male) aged 20 to 30 years with hypomyelination, pituitary hypogonadotropic hypogonadism, and hypodontia. Electron microscopy and myelin protein immunohistochemistry of sural nerves showed granu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40d40e35112a0441f19a2fe9b49d4d7b
https://doi.org/10.1212/01.wnl.0000247666.28904.35

Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease

Autor: U. H. Schueler, Konrad Sandhoff, T. Kolter, Roscoe O. Brady, G. C. Zirzow, Christine R. Kaneski

Publikováno v: Journal of inherited metabolic disease. 27(5)

Summary: Gaucher disease, the most common sphingolipidosis, is caused by a decreased activity of glucosylceramide β-glucosidase, resulting in the accumulation of glucosylceramide in macrophage-derived cells known as Gaucher cells. Much of the storag

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8add84415cdba7053d0a5a22477fc5ec
https://pubmed.ncbi.nlm.nih.gov/15669681

Orthotopic liver transplantation in two adults with Niemann-Pick and Gaucher's diseases: implications for the treatment of inherited metabolic disease

Autor: E J, Smanik, A S, Tavill, G H, Jacobs, I A, Schafer, L, Farquhar, F L, Weber, J T, Mayes, J A, Schulak, M, Petrelli, G C, Zirzow

Publikováno v: Hepatology (Baltimore, Md.). 17(1)

Two adults were seen with cirrhosis caused by different lipid storage diseases. A 42-yr-old woman with Niemann-Pick disease type B had marked hepatomegaly, ascites and recent variceal bleeding. Her evaluation showed chronic bilateral pulmonary infilt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::57aa7b1de24f8ca64eae8d08fc0d6229
https://pubmed.ncbi.nlm.nih.gov/8423040