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Journal of Inherited Metabolic Disease
|
September 3, 1999
A simple screening test for fatty acid oxidation defects using whole-blood palmitate oxidation
L E Seargeant, K Balachandra, C Mallory, et al.
The Journal of Pediatrics
|
June 1, 1991
Primary oxaluria type 2 (L-glyceric aciduria): a rare cause of nephrolithiasis in children
L E Seargeant, G W deGroot, L A Dilling, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1990
Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia
B N Chodirker, S P Coburn, L E Seargeant, et al.
American Journal of Human Genetics
|
February 1, 1990
Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening
B N Chodirker, J A Evans, L E Seargeant, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1992
Carrier detection in glutaric aciduria type I using interleukin-2-dependent cultured lymphocytes
L E Seargeant, A E Chudley, L A Dilling, et al.
American Journal of Medical Genetics
|
October 1, 1991
Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania
D H Morton, M J Bennett, L E Seargeant, et al.
Pediatrics
|
August 1, 1989
Newborn screening for galactosemia: a new method used in Manitoba
C R Greenberg, L A Dilling, R Thompson, et al.
Clinical Genetics
|
March 1, 1997
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation
A Laitinen, M Hietala, J C Haworth, et al.
Genomics
|
July 1, 1993
A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites
C R Greenberg, C L Taylor, J C Haworth, et al.
Genomics
|
November 1, 1987
Infantile hypophosphatasia--linkage with the RH locus
B N Chodirker, J A Evans, M Lewis, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 28) with videos related to
Sort By:
Page
of 3
Journal of Inherited Metabolic Disease
|
September 3, 1999
A simple screening test for fatty acid oxidation defects using whole-blood palmitate oxidation
L E Seargeant, K Balachandra, C Mallory, et al.
The Journal of Pediatrics
|
June 1, 1991
Primary oxaluria type 2 (L-glyceric aciduria): a rare cause of nephrolithiasis in children
L E Seargeant, G W deGroot, L A Dilling, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1990
Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia
B N Chodirker, S P Coburn, L E Seargeant, et al.
American Journal of Human Genetics
|
February 1, 1990
Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening
B N Chodirker, J A Evans, L E Seargeant, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1992
Carrier detection in glutaric aciduria type I using interleukin-2-dependent cultured lymphocytes
L E Seargeant, A E Chudley, L A Dilling, et al.
American Journal of Medical Genetics
|
October 1, 1991
Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania
D H Morton, M J Bennett, L E Seargeant, et al.
Pediatrics
|
August 1, 1989
Newborn screening for galactosemia: a new method used in Manitoba
C R Greenberg, L A Dilling, R Thompson, et al.
Clinical Genetics
|
March 1, 1997
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation
A Laitinen, M Hietala, J C Haworth, et al.
Genomics
|
July 1, 1993
A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites
C R Greenberg, C L Taylor, J C Haworth, et al.
Genomics
|
November 1, 1987
Infantile hypophosphatasia--linkage with the RH locus
B N Chodirker, J A Evans, M Lewis, et al.
Page
of 3