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The New England Journal of Medicine
|
November 17, 1988
Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine
P Rinaldo, J J O'Shea, P M Coates, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1992
Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency
C A Stanley, F Sunaryo, D E Hale, et al.
The Journal of Pediatrics
|
June 1, 1995
Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency
A Bhala, S M Willi, P Rinaldo, et al.
The New England Journal of Medicine
|
July 2, 1992
Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane
C A Stanley, D E Hale, G T Berry, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 3, 2001
The spectrum of growth abnormalities in children with 18q deletions
D E Hale, J D Cody, J Baillargeon, et al.
Human Genetics
|
December 22, 1999
Haplosufficiency of the melancortin-4 receptor gene in individuals with deletions of 18q
J D Cody, X T Reveles, D E Hale, et al.
The Journal of Clinical Investigation
|
March 1, 1991
Ca2+ responses to interleukin 1 and tumor necrosis factor in cultured human skin fibroblasts. Possible implications for Reye syndrome
B E Corkey, J F Geschwind, J T Deeney, et al.
Clinical Chemistry
|
February 1, 1992
When do gut flora in the newborn produce 3-phenylpropionic acid? Implications for early diagnosis of medium-chain acyl-CoA dehydrogenase deficiency
M J Bennett, A Bhala, S F Poirier, et al.
Pediatric Research
|
July 1, 1993
Renal handling of carnitine in secondary carnitine deficiency disorders
C A Stanley, G T Berry, M J Bennett, et al.
Progress in Clinical and Biological Research
|
January 1, 1992
Molecular characterization of medium-chain acyl-CoA dehydrogenase deficiency causing sudden death
D P Kelly, A J Whelan, D E Hale, et al.
Page
of 9
Search research articles
Search
Showing results (51-60 of 85) with videos related to
Sort By:
Page
of 9
The New England Journal of Medicine
|
November 17, 1988
Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine
P Rinaldo, J J O'Shea, P M Coates, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1992
Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency
C A Stanley, F Sunaryo, D E Hale, et al.
The Journal of Pediatrics
|
June 1, 1995
Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency
A Bhala, S M Willi, P Rinaldo, et al.
The New England Journal of Medicine
|
July 2, 1992
Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane
C A Stanley, D E Hale, G T Berry, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 3, 2001
The spectrum of growth abnormalities in children with 18q deletions
D E Hale, J D Cody, J Baillargeon, et al.
Human Genetics
|
December 22, 1999
Haplosufficiency of the melancortin-4 receptor gene in individuals with deletions of 18q
J D Cody, X T Reveles, D E Hale, et al.
The Journal of Clinical Investigation
|
March 1, 1991
Ca2+ responses to interleukin 1 and tumor necrosis factor in cultured human skin fibroblasts. Possible implications for Reye syndrome
B E Corkey, J F Geschwind, J T Deeney, et al.
Clinical Chemistry
|
February 1, 1992
When do gut flora in the newborn produce 3-phenylpropionic acid? Implications for early diagnosis of medium-chain acyl-CoA dehydrogenase deficiency
M J Bennett, A Bhala, S F Poirier, et al.
Pediatric Research
|
July 1, 1993
Renal handling of carnitine in secondary carnitine deficiency disorders
C A Stanley, G T Berry, M J Bennett, et al.
Progress in Clinical and Biological Research
|
January 1, 1992
Molecular characterization of medium-chain acyl-CoA dehydrogenase deficiency causing sudden death
D P Kelly, A J Whelan, D E Hale, et al.
Page
of 9