Kustermann-Kuhn B - Search Results

1

Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses.

Harzer K, Paton BC, Poulos A, Kustermann-Kuhn B, Roggendorf W, Grisar T, Popp M. Harzer K, et al. Eur J Pediatr. 1989 Oct;149(1):31-9. doi: 10.1007/BF02024331. Eur J Pediatr. 1989. PMID: 2514102 Review.

2

Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical, and immunological study.

Schlote W, Harzer K, Christomanou H, Paton BC, Kustermann-Kuhn B, Schmid B, Seeger J, Beudt U, Schuster I, Langenbeck U. Schlote W, et al. Eur J Pediatr. 1991 Jun;150(8):584-91. doi: 10.1007/BF02072213. Eur J Pediatr. 1991. PMID: 1683286

3

A case of combined Farber and Sandhoff disease.

Fusch C, Huenges R, Moser HW, Sewell AC, Roggendorf W, Kustermann-Kuhn B, Poulos A, Carey WF, Harzer K. Fusch C, et al. Eur J Pediatr. 1989 Apr;148(6):558-62. doi: 10.1007/BF00441558. Eur J Pediatr. 1989. PMID: 2744019

4

Additional biochemical findings in a patient and fetal sibling with a genetic defect in the sphingolipid activator protein (SAP) precursor, prosaposin. Evidence for a deficiency in SAP-1 and for a normal lysosomal neuraminidase.

Paton BC, Schmid B, Kustermann-Kuhn B, Poulos A, Harzer K. Paton BC, et al. Biochem J. 1992 Jul 15;285 ( Pt 2)(Pt 2):481-8. doi: 10.1042/bj2850481. Biochem J. 1992. PMID: 1637339 Free PMC article.

5

B1 variant of GM2 gangliosidosis in a 12-year-old patient.

Goebel HH, Stolte G, Kustermann-Kuhn B, Harzer K. Goebel HH, et al. Pediatr Res. 1989 Jan;25(1):89-93. doi: 10.1203/00006450-198901000-00019. Pediatr Res. 1989. PMID: 2521932

6

Quantified increases of cholesterol, total lipid and globotriaosylceramide in filipin-positive Niemann-Pick type C fibroblasts.

Harzer K, Kustermann-Kuhn B. Harzer K, et al. Among authors: kustermann kuhn b. Clin Chim Acta. 2001 Mar;305(1-2):65-73. doi: 10.1016/s0009-8981(00)00421-6. Clin Chim Acta. 2001. PMID: 11249924

7

Brain galactolipid content in a patient with pseudoarylsulfatase A deficiency and coincidental diffuse disseminated sclerosis, and in patients with metachromatic, adreno-, and other leukodystrophies.

Harzer K, Kustermann-Kuhn B. Harzer K, et al. J Neurochem. 1987 Jan;48(1):62-6. doi: 10.1111/j.1471-4159.1987.tb13127.x. J Neurochem. 1987. PMID: 2878976

8

Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms.

Kustermann-Kuhn B, Harzer K. Kustermann-Kuhn B, et al. Hum Genet. 1983;65(2):172-5. doi: 10.1007/BF00286657. Hum Genet. 1983. PMID: 6228513

9

Leptomeningeal lipid storage patterns in Fabry disease.

Elleder M, Christomanou H, Kustermann-Kuhn B, Harzer K. Elleder M, et al. Among authors: kustermann kuhn b. Acta Neuropathol. 1994;88(6):579-82. doi: 10.1007/BF00296496. Acta Neuropathol. 1994. PMID: 7879606

10

In vitro analysis of multipotent mesenchymal stromal cells as potential cellular therapeutics in neurometabolic diseases in pediatric patients.

Müller I, Kustermann-Kuhn B, Holzwarth C, Isensee G, Vaegler M, Harzer K, Krägeloh-Mann I, Handgretinger R, Bruchelt G. Müller I, et al. Among authors: kustermann kuhn b. Exp Hematol. 2006 Oct;34(10):1413-9. doi: 10.1016/j.exphem.2006.06.007. Exp Hematol. 2006. PMID: 16982334 Free article. Clinical Trial.

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