W Baier|K Harzer - JoVE Visualize

Showing results (51-60 of 133) with videos related to

Pageof 14

Sort By:

European Journal of Pediatrics|February 14, 1998

Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation groupO Schofer, B Mischo, W Püschel, et al.

Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde|October 1, 1992

[Response criteria for enzyme substitution in Gaucher disease]F Berthold, H Sieverts, G Benz-Bohm, et al.

Human Genetics|January 1, 1984

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, et al.

Neuropadiatrie|August 1, 1975

Cytosome morphology and distribution of generalized ceroidlipofuscinosis in a twenty-eight month old boy with normal myeloperoxidase activityA P Anzil, K Blinzinger, K Harzer, et al.

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.

Neuropediatrics|February 1, 1981

Spectral analysis of EEG in the late course of primary generalized myoclonic-astatic epilepsy. I. EEG and clinical dataA Gundel, W Baier, H Doose, 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.

Pageof 14

Showing results (51-60 of 133) with videos related to

Sort By:

Pageof 14

European Journal of Pediatrics|February 14, 1998

Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation groupO Schofer, B Mischo, W Püschel, et al.

Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde|October 1, 1992

[Response criteria for enzyme substitution in Gaucher disease]F Berthold, H Sieverts, G Benz-Bohm, et al.

Human Genetics|January 1, 1984

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, et al.

Neuropadiatrie|August 1, 1975

Cytosome morphology and distribution of generalized ceroidlipofuscinosis in a twenty-eight month old boy with normal myeloperoxidase activityA P Anzil, K Blinzinger, K Harzer, et al.

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.

Neuropediatrics|February 1, 1981

Spectral analysis of EEG in the late course of primary generalized myoclonic-astatic epilepsy. I. EEG and clinical dataA Gundel, W Baier, H Doose, 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.

Pageof 14