The pH-resistance of erythrocytes. I. An investigation into the cause of haemolysis.

Autor: VAN KAMPEN EJ, GRAAFLAND CA, HASSELMAN JJ

Publikováno v: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 1957 Apr; Vol. 2 (2), pp. 95-104.

Magnesium.

Autor: HASSELMAN JJ, VAN KAMPEN EJ

Publikováno v: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 1958 Jul; Vol. 3 (4), pp. 305-19.

Newborn screening of mucopolysaccharidoses: past, present, and future.

Autor: Arunkumar N; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Department of Health Sciences, University of Delaware, Newark, DE, USA., Langan TJ; Departments of Neurology Pediatrics, and Physiology and Biophysics, State University of New York at Buffalo, Buffalo, NY, USA., Stapleton M; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Department of Biological Sciences, University of Delaware, Newark, DE, USA., Kubaski F; Medical Genetics Service, HCPA, Porto Alegre, Brazil.; Department of Genetics and Molecular Biology-PPGBM, UFRGS, Porto Alegre, Brazil.; INAGEMP, Porto Alegre, Brazil., Mason RW; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Department of Biological Sciences, University of Delaware, Newark, DE, USA., Singh R; Baebies, 615 Davis Drive, Durham, NC, USA., Kobayashi H; Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan., Yamaguchi S; Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan., Suzuki Y; Medical Education Development Center, Gifu University, Gifu, Japan., Orii K; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan., Orii T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan., Fukao T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan., Tomatsu S; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA. stomatsu@nemours.org.; Department of Biological Sciences, University of Delaware, Newark, DE, USA. stomatsu@nemours.org.; Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan. stomatsu@nemours.org.; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan. stomatsu@nemours.org.; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA. stomatsu@nemours.org.

Publikováno v: Journal of human genetics [J Hum Genet] 2020 Jul; Vol. 65 (7), pp. 557-567. Date of Electronic Publication: 2020 Apr 10.

Diagnosing mucopolysaccharidosis IVA.

Autor: Wood, Timothy, Harvey, Katie, Beck, Michael, Burin, Maira, Chien, Yin-Hsiu, Church, Heather, D'Almeida, Vânia, Diggelen, Otto, Fietz, Michael, Giugliani, Roberto, Harmatz, Paul, Hawley, Sara, Hwu, Wuh-Liang, Ketteridge, David, Lukacs, Zoltan, Miller, Nicole, Pasquali, Marzia, Schenone, Andrea, Thompson, Jerry, Tylee, Karen

Publikováno v: Journal of Inherited Metabolic Disease; Mar2013, Vol. 36 Issue 2, p293-307, 15p

MPS screening methods, the Berry spot and acid turbidity tests, cause a high incidence of false-negative results in sanfilippo and morquio syndromes.

Autor: Chih-Kuang, Chang, Shuan-Pei, Lin, Shyue-Jye, Lee, Tuen-Jen, Wang

Publikováno v: Journal of Clinical Laboratory Analysis; 2002, Vol. 16 Issue 5, p253-258, 6p