Karen J. Norrgard

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Publications

Citations

336

H-Index

Active since

1997

Affiliations

Virginia Commonwealth University Medical Center(Current)

Karen J. Norrgard is an author at Virginia Commonwealth University Medical Center specializing in enzyme deficiencies, biotinidase deficiency, and life sciences.

Publications per year

1997–1999

Publications

Delayed-onset profound biotinidase deficiency

Barry Wolf, Robert J. Pomponio, Karen J. Norrgard et al. · The Journal of Pediatrics · 1998 · 84 citations

Life Sciences, Biochemistry, Nutritional Sciences +10

Mutations Causing Profound Biotinidase Deficiency in Children Ascertained by Newborn Screening in the United States Occur at Different Frequencies than in Symptomatic Children

Karen J. Norrgard, Robert J. Pomponio, Jeanne Hymes et al. · Pediatric Research · 1999 · 52 citations

Life Sciences, Genetics, Pediatrics +15

Profound biotinidase deficiency in two asymptomatic adults

Barry Wolf, Karen J. Norrgard, Robert J. Pomponio et al. · American Journal of Medical Genetics · 1997 · 51 citations

Life Sciences, Genetics, Pediatrics +16

Double mutation (A171T) and (D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States

Karen J. Norrgard, Robert J. Pomponio, Katie L. Swango et al. · Human Mutation · 1998 · 47 citations

Life Sciences, Genetics, Molecular Genetics +15

Mutation (Q456H) Is the Most Common Cause of Profound Biotinidase Deficiency in Children Ascertained by Newborn Screening in the United States

Karen J. Norrgard, Robert J. Pomponio, Katie L. Swango et al. · Biochemical and Molecular Medicine · 1997 · 46 citations

Life Sciences, Genetics, Pediatrics +14

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