S Ziyeh|K Harzer - JoVE Visualize

Showing results (61-70 of 108) with videos related to

Pageof 11

Sort By:

American Journal of Medical Genetics|May 3, 1996

Methylamine accumulation in cultured cells as a measure of the aqueous storage compartment in the laboratory diagnosis of genetic lysosomal diseasesJ Kopitz, K Harzer, A Kohlschütter, et al.

Gene Therapy|August 3, 2000

Long-term expression and transfer of arylsulfatase A into brain of arylsulfatase A-deficient mice transplanted with bone marrow expressing the arylsulfatase A cDNA from a retroviral vectorU Matzner, K Harzer, R D Learish, et al.

Journal of Child Neurology|October 1, 1990

Late-onset globoid cell leukodystrophy: unusual ultrastructural pathology and subtotal beta-galactocerebrosidase deficiencyH H Goebel, K Harzer, J P Ernst, et al.

Biochemical and Biophysical Research Communications|May 16, 1994

Sphingolipid activator protein D (sap-D) stimulates the lysosomal degradation of ceramide in vivoA Klein, M Henseler, C Klein, et al.

The Biochemical Journal|July 15, 1992

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 neuraminidaseB C Paton, B Schmid, B Kustermann-Kuhn, et al.

Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde|May 1, 1986

[Chronic hemorrhagic pancreatitis in gallbladder polyposis as an initial symptom of metachromatic leukodystrophy]K H Deeg, R Reif, K Stehr, et al.

Der Pathologe|March 1, 1996

[Disseminated lipogranulomatosis (Farber disease) with hydrops fetalis]A Schäfer, K Harzer, E Kattner, et al.

Deutsche Medizinische Wochenschrift (1946)|May 21, 1976

[Prenatal diagnosis of globoid-cell leukodystrophy (Krabbe's disease) (author's transl)]K Harzer, H U Benz, H Knörr-Gärtner, et al.

Neuropediatrics|May 1, 1985

Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla diseaseK Wolburg-Buchholz, W Schlote, J Baumkötter, et al.

The Journal of Biological Chemistry|April 25, 1991

Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical diseaseH Holtschmidt, K Sandhoff, H Y Kwon, et al.

Pageof 11

Showing results (61-70 of 108) with videos related to

Sort By:

Pageof 11

American Journal of Medical Genetics|May 3, 1996

Methylamine accumulation in cultured cells as a measure of the aqueous storage compartment in the laboratory diagnosis of genetic lysosomal diseasesJ Kopitz, K Harzer, A Kohlschütter, et al.

Gene Therapy|August 3, 2000

Long-term expression and transfer of arylsulfatase A into brain of arylsulfatase A-deficient mice transplanted with bone marrow expressing the arylsulfatase A cDNA from a retroviral vectorU Matzner, K Harzer, R D Learish, et al.

Journal of Child Neurology|October 1, 1990

Late-onset globoid cell leukodystrophy: unusual ultrastructural pathology and subtotal beta-galactocerebrosidase deficiencyH H Goebel, K Harzer, J P Ernst, et al.

Biochemical and Biophysical Research Communications|May 16, 1994

Sphingolipid activator protein D (sap-D) stimulates the lysosomal degradation of ceramide in vivoA Klein, M Henseler, C Klein, et al.

The Biochemical Journal|July 15, 1992

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 neuraminidaseB C Paton, B Schmid, B Kustermann-Kuhn, et al.

Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde|May 1, 1986

[Chronic hemorrhagic pancreatitis in gallbladder polyposis as an initial symptom of metachromatic leukodystrophy]K H Deeg, R Reif, K Stehr, et al.

Der Pathologe|March 1, 1996

[Disseminated lipogranulomatosis (Farber disease) with hydrops fetalis]A Schäfer, K Harzer, E Kattner, et al.

Deutsche Medizinische Wochenschrift (1946)|May 21, 1976

[Prenatal diagnosis of globoid-cell leukodystrophy (Krabbe's disease) (author's transl)]K Harzer, H U Benz, H Knörr-Gärtner, et al.

Neuropediatrics|May 1, 1985

Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla diseaseK Wolburg-Buchholz, W Schlote, J Baumkötter, et al.

The Journal of Biological Chemistry|April 25, 1991

Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical diseaseH Holtschmidt, K Sandhoff, H Y Kwon, et al.

Pageof 11