B. Kustermann-Kuhn: search on Z-Library

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1

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

Kehrer, Christiane, Groeschel, Samuel, Kustermann-Kuhn, Birgit, Bürger, Friederike, Köhler, Wolfgang, Kohlschütter, Alfried, Bley, Annette, Steinfeld, Robert, Gieselmann, Volkmar, Krägeloh-Mann, Ingeb

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 580 KB

english, 2014

2

A case of combined Farber and Sandhoff disease

Ch. Fusch, R. Huenges, H. W. Moser, A. C. Sewell, W. Roggendorf, B. Kustermann-Kuhn, A. Poulos, W. F. Carey, K. Harzer

Journal:

European Journal of Pediatrics

Year:

1989

Language:

english

File:

PDF, 1.38 MB

english, 1989

3

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

Roggenkamp, R., Kustermann-Kuhn, B., Hollenberg, C. P.

Journal:

Proceedings of the National Academy of Sciences

Year:

1981

Language:

english

File:

PDF, 1.13 MB

english, 1981

4

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

B. Kustermann-Kuhn, K. Harzer, R. Schröder, W. Permanetter, J. Peiffer

Journal:

Year:

1984

Language:

english

File:

PDF, 319 KB

english, 1984

5

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

W. Schlote, K. Harzer, H. Christomanou, B. C. Paton, B. Kustermann-Kuhn, B. Schmid, J. Seeger, U. Beudt, I. Schuster, U. Langenbeck

Journal:

European Journal of Pediatrics

Year:

1991

Language:

english

File:

PDF, 2.62 MB

english, 1991

6

[Part 2: Biological Sciences] || Expression and Processing of Bacterial β -lactamase in the Yeast Saccharomyces cerevisiae

Rainer Roggenkamp, Birgit Kustermann-Kuhn and Cornelis P. Hollenberg

Journal:

Proceedings of the National Academy of Sciences

Year:

1981

Language:

english

File:

PDF, 1.19 MB

english, 1981

7

GM2 Gangliosidosis in an Adult Pet Rabbit

Rickmeyer, T., Schöniger, S., Petermann, A., Harzer, K., Kustermann-Kuhn, B., Fuhrmann, H., Schoon, H.-A.

Journal:

Journal of Comparative Pathology

Year:

2013

Language:

english

File:

PDF, 564 KB

english, 2013

8

Leptomeningeal lipid storage patterns in Fabry disease

M. Elleder, H. Christomanou, B. Kustermann-Kuhn, K. Harzer

Journal:

Acta Neuropathologica

Year:

1994

Language:

english

File:

PDF, 959 KB

english, 1994

9

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

B. Kustermann-Kuhn, K. Harzer

Journal:

Year:

1983

Language:

english

File:

PDF, 516 KB

english, 1983

10

Inheritance of multiple drug resistance inSaccharomyces cerevisiae: Linkage toleu1and analyses of 2 μm DNA in partial revertants

G. W. Saunders, G. H. Rank, B. Kustermann-Kuhn, C. P. Hollenberg

Journal:

Molecular Genetics and Genomics

Year:

1979

Language:

english

File:

PDF, 1.02 MB

english, 1979

11

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

Ingo Müller, Birgit Kustermann-Kuhn, Christina Holzwarth, Gesa Isensee, Martin Vaegler, Klaus Harzer, Ingeborg Krägeloh-Mann, Rupert Handgretinger, Gernot Bruchelt

Journal:

Experimental Hematology

Year:

2006

Language:

english

File:

PDF, 492 KB

english, 2006

12

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

Goebel, H H, Stolte, G, Kustermann-Kuhn, B, Harzer, K

Journal:

Pediatric Research

Year:

1989

Language:

english

File:

PDF, 4.10 MB

english, 1989

13

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

M. Elleder, V. Bradová, F. Smíd, M. BudĚšínský, K. Harzer, B. Kustermann-Kuhn, J. Ledvinová, BĚlohlávek, V. Král, V. Dorazilová

Journal:

Virchows Archiv

Year:

1990

Language:

english

File:

PDF, 1.71 MB

english, 1990

14

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

K. Harzer, B. C. Paton, A. Poulos, B. Kustermann-Kuhn, W. Roggendorf, T. Grisar, M. Popp

Journal:

European Journal of Pediatrics

Year:

1989

Language:

english

File:

PDF, 2.68 MB

english, 1989

15

Mitochondrial Myopathies with Necrotizing Encephalopathy of the Leigh Type

Peiffer, J., Kustermann-Kuhn, B., Mortier, W., Poremba, M., Roggendorf, W., Scholte, H.R., Schröder, J.M., Wendtland, B., Wessel, K., Zimmermann, Ch.

Journal:

Pathology - Research and Practice

Year:

1988

Language:

english

File:

PDF, 7.91 MB

english, 1988

16

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

Peter Bauer, Rupert Knoblich, Claudia Bauer, Ulrich Finckh, Antje Hufen, Julia Kropp, Silja Braun, Birgit Kustermann-Kuhn, Dörthe Schmidt, Klaus Harzer, Arndt Rolfs

Journal:

Year:

2002

Language:

english

File:

PDF, 565 KB

english, 2002

17

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

G. Müller, W. Baumgärtner, A. Moritz, A. Sewell, B. Kustermann-Kuhn

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 70 KB

english, 1998

18

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

E. Hund, A. Grau, W. Fogel, M. Forsting, M. Cantz, B. Kustermann-Kuhn, K. Harzer, R. Navon, H.H. Goebel, H.-M. Meinck

Journal:

Journal of the Neurological Sciences

Year:

1997

Language:

english

File:

PDF, 1.46 MB

english, 1997

19

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

Hollenberg, C. P., Degelmann, A., Kustermann-Kuhn, B., Royer, H. D.

Journal:

Proceedings of the National Academy of Sciences

Year:

1976

Language:

english

File:

PDF, 1.53 MB

english, 1976

20

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

Klaus Harzer, Birgit Kustermann-Kuhn

Journal:

Clinica Chimica Acta

Year:

2001

Language:

english

File:

PDF, 95 KB

english, 2001

21

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

Hollenberg, Cornelis P., Kustermann-Kuhn, Birgit, Royer, Hans-Dieter

Journal:

Year:

1976

Language:

english

File:

PDF, 1.87 MB

english, 1976

22

Characterization of 2-μ m DNA of Saccharomyces cerevisiae by Restriction Fragment Analysis and Integration in an Escherichia coli Plasmid

C. P. Hollenberg, A. Degelmann, B. Kustermann-Kuhn and H. D. Royer

Journal:

Proceedings of the National Academy of Sciences

Year:

1976

Language:

english

File:

PDF, 1.44 MB

english, 1976

23

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

Journal:

Journal of Neurochemistry

Year:

1987

Language:

english

File:

PDF, 540 KB

english, 1987

24

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, B C, Schmid, B, Kustermann-Kuhn, B, Poulos, A, Harzer, K

Journal:

Biochemical Journal

Year:

1992

Language:

english

File:

PDF, 1.99 MB

english, 1992

25

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

Böhringer, Judith, Santer, René, Schumacher, Neele, Gieseke, Friederike, Cornils, Kerstin, Pechan, Maria, Kustermann-Kuhn, Birgit, Handgretinger, Rupert, Schöls, Ludger, Harzer, Klaus, Krägeloh-Mann,

Journal:

Year:

2017

Language:

english

File:

PDF, 1.21 MB

english, 2017

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