AyneKimberly(Popovich)IafollaMD

PubMed

• 2 citations
  Medium-chain acyl CoA dehydrogenase deficiency: Its relationship to SIDS and the impact on genetic counseling.
  Allyn McConkie-Rosell, A. Kimberly Iafolla> ;Journal of Genetic Counseling. 1993 Mar 1
• 106 citations
  The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria) : case reports of 23 new patients
  K. Michael Gibson, Ernst Christensen, Cornelis Jakobs, Brian Fowler, Michael Clarke, Gerhard Hammersen, Klaus Raab, Joyce A. Kobori, Allie Moosa, Brigitte Vollmer, Eva...> ;Pediatrics. 1997 Apr 1
• 22 citations
  Hemangioma, supraumbilical midline raphé, and coarctation of the aorta with a right aortic arch: single causal entity?
  Priya S. Kishnani, A. K. Iafolla, Allyn McConkie-Rosell, Van Hove Jl, Ronald J. Kanter, Stephen G. Kahler> ;American Journal of Medical Genetics. 1995 Oct 23
• A case of duplication of 13q32-->qter and deletion of 18p11.32-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited.
  Helali, N., Iafolla, A. K., Kahler, S. G., Qumsiyeh, M. B.> ;J Med Genet. 1996 Jul
• 28 citations
  Fryns syndrome survivors and neurologic outcome
  Johan L. K. Van Hove, Gail A. Spiridigliozzi, Ralph Heinz, Allyn McConkie-Rosell, A. Kimberly Iafolla, Stephen G. Kahler> ;American Journal of Medical Genetics. 1995 Nov 20
• 9 citations
  Familial infantile apnea and immature beta oxidation.
  A. Kimberly Iafolla, Iley B. Browning, Charles R. Roe> ;Pediatric Pulmonology. 1995 Sep 1
• 129 citations
  Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.
  J. L. K. Van Hove, Wen Zhang, Stephen G. Kahler, C R Roe, Yuan-Tsong Chen, N. Terada, D H Chace, A. K. Iafolla, Jia-Huan Ding, David S. Millington> ;American Journal of Human Genetics. 1993 May 1
• 194 citations
  Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.
  A. Kimberly Iafolla, Robert J. Thompson, Charles R. Roe> ;The Journal of Pediatrics. 1994 Mar 1
• Medicinal leeches in the postoperative care of bladder exstrophy.
  Iafolla, A. K.> ;J Perinatol. 1995 Mar 01
• Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I.
  Iafolla, A. K., Kahler, S. G.> ;J Pediatr. 1989 Jun
• Citrate therapy in argininosuccinate lyase deficiency.
  Iafolla, A. K., Gale, D. S., Roe, C. R.> ;J Pediatr. 1990 Jul
• 3 citations
  Prenatal diagnosis of metabolic disease
  A. K. Iafolla, Allyn McConkie-Rosell> ;Clinics in Perinatology. 1990 Dec 1
• Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death.
  Ding, J. H., Roe, C. R., Iafolla, A. K., Chen, Y. T.> ;N Engl J Med. 1991 Jul 4
• 39 citations
  VATER and hydrocephalus: distinct syndrome?
  A. Kimberly Iafolla, Allyn McConkie-Rosell, Yuan-Tsong Chen> ;American Journal of Medical Genetics. 1991 Jan 1
• Low plasma citrulline concentrations during protein restriction in an unaffected infant at risk for ornithine transcarbamylase deficiency.
  A. K. Iafolla, Stephen G. Kahler, Yuan-Tsong Chen> ;The Journal of Pediatrics. 1992 Mar 1
• 8 citations
  Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: Case report and review of the literature
  J. L. K. Van Hove, Allyn McConkie-Rosell, Yuang-Tsong Chen, A. K. Iafolla, J. T. Lanman, M. D. Hennessy, Stephen G. Kahler> ;American Journal of Medical Genetics. 1992 Sep 1
• Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant alleles.
  Ding, J. H., Bross, P., Yang, B. Z., Iafolla, A. K., Millington, D. S., Roe, C. R., Gregersen, N., Chen, Y. T.> ;Prog Clin Biol Res. 1992
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