B. Kustermann-Kuhn

发表

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

K. Harzer, B. Kustermann-Kuhn, Klaus Harzer, 2001, Clinica chimica acta; international journal of clinical chemistry.

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

A. Poulos, M. Popp, T. Grisar, 1989, European Journal of Pediatrics.

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.

A. Poulos, K. Harzer, B. Kustermann-Kuhn, 1992, The Biochemical journal.

Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease

M. Elleder, K. Harzer, B. Kustermann-Kuhn, 1990, Virchows Archiv A.

Synthesis of high molecular weight polypeptides in Escherichia coli minicells directed by cloned Saccharomyces cerevisiae 2-micron DNA.

C. Hollenberg, H. Royer, B. Kustermann-Kuhn, 1976, Gene.

Leptomeningeal lipid storage patterns in Fabry disease

M. Elleder, K. Harzer, B. Kustermann-Kuhn, 2004, Acta Neuropathologica.

GM2 gangliosidosis in an adult pet rabbit.

S. Schöniger, H. Schoon, H. Fuhrmann, 2013, Journal of comparative pathology.

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

W. Schlote, J. Seeger, I. Schuster, 1991, European Journal of Pediatrics.

Mitochondrial myopathies with necrotizing encephalopathy of the Leigh type.

K. Wessel, J. Peiffer, W. Roggendorf, 1988, Pathology, research and practice.

B1 Variant of GM2 Gangliosidosis in a 12-Year-Old Patient1

H. Goebel, K. Harzer, B. Kustermann-Kuhn, 1989, Pediatric Research.

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

I. Krägeloh-Mann, R. Handgretinger, G. Bruchelt, 2006, Experimental hematology.

Expression and processing of bacterial beta-lactamase in the yeast Saccharomyces cerevisiae.

C. P. Hollenberg, B. Kustermann-Kuhn, R. Roggenkamp, 1981, Proceedings of the National Academy of Sciences of the United States of America.

NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes

P. Bauer, A. Rolfs, U. Finckh, 2002, Human mutation.

Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings

M. Forsting, W. Fogel, H. Goebel, 1997, Journal of the Neurological Sciences.

Characterization of 2-mum DNA of Saccharomyces cerevisiae by restriction fragment analysis and integration in an Escherichia coli plasmid.

C. Hollenberg, H. Royer, B. Kustermann-Kuhn, 1976, Proceedings of the National Academy of Sciences of the United States of America.

Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A‐deficient immortalized mesenchymal stromal cells

L. Schöls, I. Krägeloh-Mann, R. Handgretinger, 2017, Human mutation.

Brain Galactolipid Content in a Patient with Pseudo‐Arylsulfatase A Deficiency and Coincidental Diffuse Disseminated Sclerosis, and in Patients with Metachromatic, Adreno‐, and Other Leukodystrophies

K. Harzer, B. Kustermann-Kuhn, 1987, Journal of neurochemistry.

A case of combined Farber and Sandhoff disease

H. Moser, A. Sewell, A. Poulos, 1989, European Journal of Pediatrics.

Inheritance of multiple drug resistance in Saccharomyces cerevisiae: Linkage to leu1 and analyses of 2 μm DNA in partial revertants

C. Hollenberg, G. H. Rank, B. Kustermann-Kuhn, 1979, Molecular and General Genetics MGG.

Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.

P. Bauer, I. Krägeloh-Mann, A. Rolfs, 2003, Neuropediatrics.

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

K. Harzer, B. Kustermann-Kuhn, 2004, Human Genetics.

Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort

S. Groeschel, I. Krägeloh-Mann, V. Gieselmann, 2014, Orphanet Journal of Rare Diseases.

Biochemical findings in a breeding colony of Alaskan Huskies suffering from GM1-gangliosidosis

A. Sewell, W. Baumgärtner, A. Moritz, 1998, Journal of Inherited Metabolic Disease.

Pyruvate dehydrogenase activity is not deficient in the brain of three autopsied cases with Leigh disease (subacute necrotizing encephalomyelopathy, SNE)

R. Schröder, J. Peiffer, K. Harzer, 2004, Human Genetics.