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European Journal of Pediatrics
|
October 1, 1979
Oculo-neural involvement in an enzymatically proven case of Niemann-Pick disease type B
G Hammersen, H C Oppermann, E Harms, et al.
European Journal of Pediatrics
|
February 14, 1998
Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group
O Schofer, B Mischo, W Püschel, et al.
Journal of Neurology
|
January 1, 1974
[Clinical and histological diagnosis of a case of familial adult metachromatic leucodystrophy (author's transl)]
E Czmok, F Regli, A Bischoff, 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 activity
A P Anzil, K Blinzinger, K Harzer, et al.
Acta Neuropathologica
|
August 7, 1978
Neurovisceral lipidosis compatible with Niemann-Pick disease type C: morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family
K Harzer, W Schlote, J Peiffer, 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 diseases
J Kopitz, K Harzer, A Kohlschütter, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1994
Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria
J Ledvinová, H Poupĕtová, M Elleder, 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 vector
U Matzner, K Harzer, R D Learish, et al.
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of 13
Search research articles
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Showing results (71-80 of 126) with videos related to
Sort By:
Page
of 13
European Journal of Pediatrics
|
October 1, 1979
Oculo-neural involvement in an enzymatically proven case of Niemann-Pick disease type B
G Hammersen, H C Oppermann, E Harms, et al.
European Journal of Pediatrics
|
February 14, 1998
Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group
O Schofer, B Mischo, W Püschel, et al.
Journal of Neurology
|
January 1, 1974
[Clinical and histological diagnosis of a case of familial adult metachromatic leucodystrophy (author's transl)]
E Czmok, F Regli, A Bischoff, 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 activity
A P Anzil, K Blinzinger, K Harzer, et al.
Acta Neuropathologica
|
August 7, 1978
Neurovisceral lipidosis compatible with Niemann-Pick disease type C: morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family
K Harzer, W Schlote, J Peiffer, 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 diseases
J Kopitz, K Harzer, A Kohlschütter, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1994
Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria
J Ledvinová, H Poupĕtová, M Elleder, 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 vector
U Matzner, K Harzer, R D Learish, et al.
Page
of 13