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Journal of Child Neurology
|
October 1, 1990
Late-onset globoid cell leukodystrophy: unusual ultrastructural pathology and subtotal beta-galactocerebrosidase deficiency
H H Goebel, K Harzer, J P Ernst, et al.
Lancet (London, England)
|
August 18, 1990
In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan's disease) by proton spectroscopy
W Grodd, I Krägeloh-Mann, D Petersen, et al.
Biochemical and Biophysical Research Communications
|
May 16, 1994
Sphingolipid activator protein D (sap-D) stimulates the lysosomal degradation of ceramide in vivo
A 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 neuraminidase
B 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 disease
K 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 disease
H Holtschmidt, K Sandhoff, H Y Kwon, et al.
Internal Medicine Journal
|
February 14, 2006
Clinical findings in Niemann-Pick disease type B
K Müssig, K Harzer, H Mayrhofer, et al.
Page
of 13
Search research articles
Search
Showing results (81-90 of 126) with videos related to
Sort By:
Page
of 13
Journal of Child Neurology
|
October 1, 1990
Late-onset globoid cell leukodystrophy: unusual ultrastructural pathology and subtotal beta-galactocerebrosidase deficiency
H H Goebel, K Harzer, J P Ernst, et al.
Lancet (London, England)
|
August 18, 1990
In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan's disease) by proton spectroscopy
W Grodd, I Krägeloh-Mann, D Petersen, et al.
Biochemical and Biophysical Research Communications
|
May 16, 1994
Sphingolipid activator protein D (sap-D) stimulates the lysosomal degradation of ceramide in vivo
A 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 neuraminidase
B 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 disease
K 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 disease
H Holtschmidt, K Sandhoff, H Y Kwon, et al.
Internal Medicine Journal
|
February 14, 2006
Clinical findings in Niemann-Pick disease type B
K Müssig, K Harzer, H Mayrhofer, et al.
Page
of 13