Karen J. Norrgard

Delayed-onset profound biotinidase deficiency

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

Biochemistry, Heme Homeostasis, Natural Sciences +5

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 · Full text

Newborn Screening, Genetic Disorder, Genetics +9

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

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

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

Genetic Testing, Newborn Screening, Mendelian Disorder +11