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ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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R J Pomponio

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The Journal of Pediatrics|March 20, 1998

Delayed-onset profound biotinidase deficiencyB Wolf, R J Pomponio, K J Norrgard, et al.

Prenatal Diagnosis|March 27, 1998

Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analysesR J Pomponio, J Hymes, A Pandya, et al.

Human Heredity|May 9, 2000

Fine mapping of the human biotinidase gene and haplotype analysis of five common mutationsS H Blanton, A Pandya, B L Landa, et al.

Neurology|January 11, 2007

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotypeM A Kroos, R J Pomponio, M L Hagemans, et al.

Molecular Genetics and Metabolism|June 5, 2012

Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patientsA T Palermo, R E Palmer, K S So, et al.

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Search research articles

Showing results (21-30 of 25) with videos related to

Sort By:

Pageof 3

You have reached the last page of results.This site can display upto 25 results.

The Journal of Pediatrics|March 20, 1998

Delayed-onset profound biotinidase deficiencyB Wolf, R J Pomponio, K J Norrgard, et al.

Prenatal Diagnosis|March 27, 1998

Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analysesR J Pomponio, J Hymes, A Pandya, et al.

Human Heredity|May 9, 2000

Fine mapping of the human biotinidase gene and haplotype analysis of five common mutationsS H Blanton, A Pandya, B L Landa, et al.

Neurology|January 11, 2007

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotypeM A Kroos, R J Pomponio, M L Hagemans, et al.

Molecular Genetics and Metabolism|June 5, 2012

Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patientsA T Palermo, R E Palmer, K S So, et al.

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