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Journal of Inherited Metabolic Disease
|
November 8, 2003
Towards quality assurance in the determination of lysosomal enzymes: a two-centre study
Z Lukacs, A Keil, V Peters, et al.
Biological Chemistry Hoppe-Seyler
|
January 1, 1994
Further evidence that human lysosomal sialidase is not derived from prosaposin. Prosaposin biosynthesis and ganglioside sialidase studies in prosaposin- and sialidase-deficient fibroblast lines
B C Paton, H R Schneider-Jakob, J Kopitz, et al.
American Journal of Perinatology
|
August 7, 1999
Refractory congenital ascites as a manifestation of neonatal sialidosis: clinical, biochemical and morphological studies in a newborn Syrian male infant
C Sergi, B Beedgen, J Kopitz, et al.
The Journal of Biological Chemistry
|
July 14, 2001
Negative regulation of neuroblastoma cell growth by carbohydrate-dependent surface binding of galectin-1 and functional divergence from galectin-3
J Kopitz, C von Reitzenstein, S André, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
October 29, 1997
Adult Niemann-Pick disease type C mimicking features of multiple sclerosis
A J Grau, T Brandt, M Weisbrod, et al.
Investigative Ophthalmology & Visual Science
|
March 6, 1999
Inhibition of lysosomal degradative functions in RPE cells by a retinoid component of lipofuscin
F G Holz, F Schütt, J Kopitz, et al.
Prenatal Diagnosis
|
November 1, 1986
Prenatal diagnosis and confirmation of infantile sialic acid storage disease
E Vamos, J Libert, N Elkhazen, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
March 22, 2001
Ceramide induces aSMase expression: implications for oxLDL-induced apoptosis
H P Deigner, R Claus, G A Bonaterra, et al.
Human Genetics
|
November 10, 2001
Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene
C Sergi, R Penzel, J Uhl, et al.
Journal of the Neurological Sciences
|
January 1, 1997
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, et al.
Page
of 8
Search research articles
Search
Showing results (61-70 of 72) with videos related to
Sort By:
Page
of 8
Journal of Inherited Metabolic Disease
|
November 8, 2003
Towards quality assurance in the determination of lysosomal enzymes: a two-centre study
Z Lukacs, A Keil, V Peters, et al.
Biological Chemistry Hoppe-Seyler
|
January 1, 1994
Further evidence that human lysosomal sialidase is not derived from prosaposin. Prosaposin biosynthesis and ganglioside sialidase studies in prosaposin- and sialidase-deficient fibroblast lines
B C Paton, H R Schneider-Jakob, J Kopitz, et al.
American Journal of Perinatology
|
August 7, 1999
Refractory congenital ascites as a manifestation of neonatal sialidosis: clinical, biochemical and morphological studies in a newborn Syrian male infant
C Sergi, B Beedgen, J Kopitz, et al.
The Journal of Biological Chemistry
|
July 14, 2001
Negative regulation of neuroblastoma cell growth by carbohydrate-dependent surface binding of galectin-1 and functional divergence from galectin-3
J Kopitz, C von Reitzenstein, S André, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
October 29, 1997
Adult Niemann-Pick disease type C mimicking features of multiple sclerosis
A J Grau, T Brandt, M Weisbrod, et al.
Investigative Ophthalmology & Visual Science
|
March 6, 1999
Inhibition of lysosomal degradative functions in RPE cells by a retinoid component of lipofuscin
F G Holz, F Schütt, J Kopitz, et al.
Prenatal Diagnosis
|
November 1, 1986
Prenatal diagnosis and confirmation of infantile sialic acid storage disease
E Vamos, J Libert, N Elkhazen, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
March 22, 2001
Ceramide induces aSMase expression: implications for oxLDL-induced apoptosis
H P Deigner, R Claus, G A Bonaterra, et al.
Human Genetics
|
November 10, 2001
Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene
C Sergi, R Penzel, J Uhl, et al.
Journal of the Neurological Sciences
|
January 1, 1997
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, et al.
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of 8