H L Levy|M Ghavami - JoVE Visualize

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American Journal of Medical Genetics|November 1, 1984

Clinical and biochemical characteristics of prolidase deficiency in siblingsB J Freij, H L Levy, G Dudin, et al.

Proceedings of the National Academy of Sciences of the United States of America|October 1, 1980

Cord-blood tyrosine levels in the full-term phenylketonuric fetus and the "justification hypothesis"C R Scriver, D E Cole, S A Houghton, et al.

The Journal of Clinical Investigation|October 1, 1995

Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiencyT Ubagai, K J Lei, S Huang, et al.

Molecular Genetics and Metabolism|August 5, 2008

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptomsS E Waisbren, H L Levy, M Noble, et al.

Journal of Human Genetics|May 16, 2009

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterinSteven F Dobrowolski, K Borski, C C Ellingson, et al.

Biochemical Medicine and Metabolic Biology|August 1, 1991

Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytesK Petry, H T Greinix, E Nudelman, et al.

Human Mutation|April 29, 1999

Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemiaT Scherer-Oppliger, A Matasovic, S Laufs, et al.

Journal of Inherited Metabolic Disease|May 9, 2000

Pulmonary hypertension associated with nonketotic hyperglycinaemiaS Cataltepe, L J van Marter, H Kozakewich, et al.

Journal of Inherited Metabolic Disease|January 1, 1994

Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemiasP Guldberg, H L Levy, R Koch, et al.

Clinical Chemistry|March 1, 1996

Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometryD H Chace, S L Hillman, D S Millington, et al.

Pageof 14

Showing results (91-100 of 134) with videos related to

Sort By:

Pageof 14

American Journal of Medical Genetics|November 1, 1984

Clinical and biochemical characteristics of prolidase deficiency in siblingsB J Freij, H L Levy, G Dudin, et al.

Proceedings of the National Academy of Sciences of the United States of America|October 1, 1980

Cord-blood tyrosine levels in the full-term phenylketonuric fetus and the "justification hypothesis"C R Scriver, D E Cole, S A Houghton, et al.

The Journal of Clinical Investigation|October 1, 1995

Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiencyT Ubagai, K J Lei, S Huang, et al.

Molecular Genetics and Metabolism|August 5, 2008

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptomsS E Waisbren, H L Levy, M Noble, et al.

Journal of Human Genetics|May 16, 2009

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterinSteven F Dobrowolski, K Borski, C C Ellingson, et al.

Biochemical Medicine and Metabolic Biology|August 1, 1991

Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytesK Petry, H T Greinix, E Nudelman, et al.

Human Mutation|April 29, 1999

Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemiaT Scherer-Oppliger, A Matasovic, S Laufs, et al.

Journal of Inherited Metabolic Disease|May 9, 2000

Pulmonary hypertension associated with nonketotic hyperglycinaemiaS Cataltepe, L J van Marter, H Kozakewich, et al.

Journal of Inherited Metabolic Disease|January 1, 1994

Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemiasP Guldberg, H L Levy, R Koch, et al.

Clinical Chemistry|March 1, 1996

Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometryD H Chace, S L Hillman, D S Millington, et al.

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