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Lancet (London, England)
|
August 31, 1991
Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards
Y Matsubara, K Narisawa, K Tada, et al.
American Journal of Medical Genetics
|
March 25, 1998
Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients
J Christodoulou, D M Danks, B Sarkar, et al.
Biological Trace Element Research
|
November 26, 2013
Failure to confirm abnormal copper utilization in crinkler (cr) mice
J R Mann, J Camakaris, J M Gillespie, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
Peroxisomal integral membrane proteins in livers of patients with Zellweger syndrome, infantile Refsum's disease and X-linked adrenoleukodystrophy
G M Small, M J Santos, T Imanaka, et al.
Lancet (London, England)
|
May 20, 1972
Menkes' kinky-hair syndrome
D M Danks, P E Campbell, J Walker-Smith, et al.
Journal of Neurogenetics
|
April 1, 1985
Properties of succinic semialdehyde dehydrogenase in cultured human lymphoblasts
K M Gibson, L Sweetman, I Jansen, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1983
Deoxyribose-5-phosphate aldolase deficiency--a harmless inborn error of metabolism
A Chappel, R D Scholem, G K Brown, et al.
Human Genetics
|
March 1, 1990
Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome
M Schmidt, A Certoma, D Du Sart, et al.
The Journal of Clinical Investigation
|
January 1, 1990
Biochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypes
F Endo, A Tanoue, A Kitano, et al.
European Journal of Pediatrics
|
January 1, 1988
"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis
G K Brown, E A Haan, D M Kirby, et al.
Page
of 26
Search research articles
Search
Showing results (231-240 of 255) with videos related to
Sort By:
Page
of 26
Lancet (London, England)
|
August 31, 1991
Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards
Y Matsubara, K Narisawa, K Tada, et al.
American Journal of Medical Genetics
|
March 25, 1998
Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients
J Christodoulou, D M Danks, B Sarkar, et al.
Biological Trace Element Research
|
November 26, 2013
Failure to confirm abnormal copper utilization in crinkler (cr) mice
J R Mann, J Camakaris, J M Gillespie, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
Peroxisomal integral membrane proteins in livers of patients with Zellweger syndrome, infantile Refsum's disease and X-linked adrenoleukodystrophy
G M Small, M J Santos, T Imanaka, et al.
Lancet (London, England)
|
May 20, 1972
Menkes' kinky-hair syndrome
D M Danks, P E Campbell, J Walker-Smith, et al.
Journal of Neurogenetics
|
April 1, 1985
Properties of succinic semialdehyde dehydrogenase in cultured human lymphoblasts
K M Gibson, L Sweetman, I Jansen, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1983
Deoxyribose-5-phosphate aldolase deficiency--a harmless inborn error of metabolism
A Chappel, R D Scholem, G K Brown, et al.
Human Genetics
|
March 1, 1990
Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome
M Schmidt, A Certoma, D Du Sart, et al.
The Journal of Clinical Investigation
|
January 1, 1990
Biochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypes
F Endo, A Tanoue, A Kitano, et al.
European Journal of Pediatrics
|
January 1, 1988
"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis
G K Brown, E A Haan, D M Kirby, et al.
Page
of 26