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The Journal of Clinical Investigation
|
May 1, 1995
Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency
J C Brackett, H F Sims, P Rinaldo, 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.
Pediatric Research
|
November 1, 1991
Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type II due to electron transfer flavoprotein (beta-subunit) deficiency
S Yamaguchi, N Shimizu, T Orii, et al.
Seminars in Perinatology
|
May 20, 1999
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications
A W Strauss, M J Bennett, P Rinaldo, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
May 9, 2001
Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia
M T Collins, C Chebli, J Jones, et al.
Pediatric Research
|
September 1, 1991
Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines
P Rinaldo, R D Welch, S F Previs, et al.
Fetal Diagnosis and Therapy
|
January 1, 1997
Modulation of B12 dosage and response in fetal treatment of methylmalonic aciduria (MMA): titration of treatment dose to serum and urine MMA
M I Evans, D A Duquette, P Rinaldo, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis
M J Bennett, K M Gibson, W G Sherwood, et al.
Hepatology (Baltimore, Md.)
|
February 1, 1994
Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
W R Treem, P Rinaldo, D E Hale, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1989
Comparison of urinary acylglycines and acylcarnitines as diagnostic markers of medium-chain acyl-CoA dehydrogenase deficiency
P Rinaldo, J J O'Shea, S I Goodman, et al.
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Search research articles
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Showing results (61-70 of 95) with videos related to
Sort By:
Page
of 10
The Journal of Clinical Investigation
|
May 1, 1995
Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency
J C Brackett, H F Sims, P Rinaldo, 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.
Pediatric Research
|
November 1, 1991
Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type II due to electron transfer flavoprotein (beta-subunit) deficiency
S Yamaguchi, N Shimizu, T Orii, et al.
Seminars in Perinatology
|
May 20, 1999
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications
A W Strauss, M J Bennett, P Rinaldo, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
May 9, 2001
Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia
M T Collins, C Chebli, J Jones, et al.
Pediatric Research
|
September 1, 1991
Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines
P Rinaldo, R D Welch, S F Previs, et al.
Fetal Diagnosis and Therapy
|
January 1, 1997
Modulation of B12 dosage and response in fetal treatment of methylmalonic aciduria (MMA): titration of treatment dose to serum and urine MMA
M I Evans, D A Duquette, P Rinaldo, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis
M J Bennett, K M Gibson, W G Sherwood, et al.
Hepatology (Baltimore, Md.)
|
February 1, 1994
Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
W R Treem, P Rinaldo, D E Hale, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1989
Comparison of urinary acylglycines and acylcarnitines as diagnostic markers of medium-chain acyl-CoA dehydrogenase deficiency
P Rinaldo, J J O'Shea, S I Goodman, et al.
Page
of 10