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Human Genetics
|
September 10, 1999
A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype
M A Maxwell, P V Nelson, S J Chin, et al.
Prenatal Diagnosis
|
January 26, 2002
Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency
B C Paton, P B Solly, P V Nelson, et al.
Advances in Experimental Medicine and Biology
|
January 1, 1992
Very long-chain fatty acids in peroxisomal disease
A Poulos, K Beckman, D W Johnson, et al.
The Journal of Biological Chemistry
|
February 15, 1992
Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene
D Schnabel, M Schröder, W Fürst, et al.
Transplantation
|
July 1, 1981
Hyperacute rejection of a transplanted human heart
R Weil, D R Clarke, Y Iwaki, et al.
European Journal of Pediatrics
|
June 1, 1991
Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical, and immunological study
W Schlote, K Harzer, H Christomanou, et al.
Neuropediatrics
|
June 10, 2005
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient
M Elleder, M Jerábková, A Befekadu, et al.
Human Molecular Genetics
|
April 20, 2001
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation
H Hulková, M Cervenková, J Ledvinová, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
June 27, 1997
Model SV40-transformed fibroblast lines for metabolic studies of human prosaposin and acid ceramidase deficiencies
M Chatelut, K Harzer, H Christomanou, et al.
Human Mutation
|
July 17, 1999
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders
Z Zhang, Y Suzuki, N Shimozawa, et al.
Page
of 7
Search research articles
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Showing results (61-70 of 70) with videos related to
Sort By:
Page
of 7
You have reached the last page of results.
This site can display upto 70 results.
Human Genetics
|
September 10, 1999
A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype
M A Maxwell, P V Nelson, S J Chin, et al.
Prenatal Diagnosis
|
January 26, 2002
Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency
B C Paton, P B Solly, P V Nelson, et al.
Advances in Experimental Medicine and Biology
|
January 1, 1992
Very long-chain fatty acids in peroxisomal disease
A Poulos, K Beckman, D W Johnson, et al.
The Journal of Biological Chemistry
|
February 15, 1992
Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene
D Schnabel, M Schröder, W Fürst, et al.
Transplantation
|
July 1, 1981
Hyperacute rejection of a transplanted human heart
R Weil, D R Clarke, Y Iwaki, et al.
European Journal of Pediatrics
|
June 1, 1991
Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical, and immunological study
W Schlote, K Harzer, H Christomanou, et al.
Neuropediatrics
|
June 10, 2005
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient
M Elleder, M Jerábková, A Befekadu, et al.
Human Molecular Genetics
|
April 20, 2001
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation
H Hulková, M Cervenková, J Ledvinová, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
June 27, 1997
Model SV40-transformed fibroblast lines for metabolic studies of human prosaposin and acid ceramidase deficiencies
M Chatelut, K Harzer, H Christomanou, et al.
Human Mutation
|
July 17, 1999
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders
Z Zhang, Y Suzuki, N Shimozawa, et al.
Page
of 7