Georgianne L Arnold

Summary

Affiliation: University of Rochester
Country: USA

Publications

  1. ncbi request reprint Iron and protein sufficiency and red cell indices in phenylketonuria
    G L Arnold
    Department of Pediatrics, University of Rochester School of Medicine and Dentistry, New York 14642, USA
    J Am Coll Nutr 20:65-70. 2001
  2. ncbi request reprint Plasma amino acids profiles in children with autism: potential risk of nutritional deficiencies
    Georgianne L Arnold
    Department of Pediatrics, University of Rochester Medical Center, Rochester, New York 14642, USA
    J Autism Dev Disord 33:449-54. 2003
  3. ncbi request reprint Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria
    G L Arnold
    Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    J Inherit Metab Dis 27:137-43. 2004
  4. ncbi request reprint A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency
    Georgianne L Arnold
    Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 777, Rochester, NY 14642, USA
    Mol Genet Metab 93:363-70. 2008
  5. doi request reprint Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State
    Georgianne L Arnold
    Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 777, Rochester, NY 14642, USA
    Mol Genet Metab 99:263-8. 2010
  6. pmc A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency
    Georgianne L Arnold
    Department of Pediatrics, University of Rochester, School of Medicine and Dentistry, Rochester, NY 14642, USA
    Mol Genet Metab 96:85-90. 2009
  7. ncbi request reprint Internet use by parents of infants with positive newborn screens
    Jane M Deluca
    University of Rochester, School of Nursing, 601 Elmwood Ave, Box SON, Rochester, NY 14642, USA
    J Inherit Metab Dis 35:879-84. 2012
  8. ncbi request reprint Protein insufficiency and linear growth restriction in phenylketonuria
    Georgianne L Arnold
    Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642, USA
    J Pediatr 141:243-6. 2002
  9. ncbi request reprint Universal nephroblastomatosis with bilateral hyperplastic nephromegaly in siblings
    Philip J Katzman
    Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA
    Pediatr Dev Pathol 12:47-52. 2009
  10. doi request reprint Parents' experiences of expanded newborn screening evaluations
    Jane M Deluca
    University of Rochester, School of Nursing, 601 Elmwood Ave, Box SON, Rochester, NY 14642, USA
    Pediatrics 128:53-61. 2011

Research Grants

Collaborators

Detail Information

Publications12

  1. ncbi request reprint Iron and protein sufficiency and red cell indices in phenylketonuria
    G L Arnold
    Department of Pediatrics, University of Rochester School of Medicine and Dentistry, New York 14642, USA
    J Am Coll Nutr 20:65-70. 2001
    ..We reviewed records of 41 children with treated phenylketonuria (PKU) in order to evaluate hematopoiesis and the effect of iron and protein sufficiency...
  2. ncbi request reprint Plasma amino acids profiles in children with autism: potential risk of nutritional deficiencies
    Georgianne L Arnold
    Department of Pediatrics, University of Rochester Medical Center, Rochester, New York 14642, USA
    J Autism Dev Disord 33:449-54. 2003
    ..The high rate of tryptophan and tyrosine deficiency in this group is also of concern given their role as neurotransmitter precursors...
  3. ncbi request reprint Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria
    G L Arnold
    Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    J Inherit Metab Dis 27:137-43. 2004
    ..Stimulant use and parent reports of attentional dysfunction are quite common in our PKU patients and appear to be strongly related to higher phenylalanine concentrations...
  4. ncbi request reprint A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency
    Georgianne L Arnold
    Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 777, Rochester, NY 14642, USA
    Mol Genet Metab 93:363-70. 2008
    ..This consensus protocol is intended to assist clinicians in the diagnosis and management of screen-positive newborns for 3-MCC deficiency and to encourage the development of evidence-based guidelines...
  5. doi request reprint Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State
    Georgianne L Arnold
    Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 777, Rochester, NY 14642, USA
    Mol Genet Metab 99:263-8. 2010
    ..We reviewed the outcome of patients identified with MCAD deficiency by the New York State NBS process to identify biochemical or genotypic markers which might predict outcome...
  6. pmc A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency
    Georgianne L Arnold
    Department of Pediatrics, University of Rochester, School of Medicine and Dentistry, Rochester, NY 14642, USA
    Mol Genet Metab 96:85-90. 2009
    ..This consensus protocol is intended to assist clinicians in the diagnosis and management of screen-positive newborns for VLCAD deficiency until evidence-based guidelines are available...
  7. ncbi request reprint Internet use by parents of infants with positive newborn screens
    Jane M Deluca
    University of Rochester, School of Nursing, 601 Elmwood Ave, Box SON, Rochester, NY 14642, USA
    J Inherit Metab Dis 35:879-84. 2012
    ..The aim of this study was to investigate parents' internet use and responses to online information following the referral of their newborn screen-positive infants...
  8. ncbi request reprint Protein insufficiency and linear growth restriction in phenylketonuria
    Georgianne L Arnold
    Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642, USA
    J Pediatr 141:243-6. 2002
    ..To study the role of protein sufficiency, age, calorie sufficiency, and phenylalanine levels in children with phenylketonuria (PKU) and determine how these affect linear growth...
  9. ncbi request reprint Universal nephroblastomatosis with bilateral hyperplastic nephromegaly in siblings
    Philip J Katzman
    Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA
    Pediatr Dev Pathol 12:47-52. 2009
    ..The pathology was most consistent with universal nephroblastomatosis with nephromegaly, a rare entity described in only 4 cases and in only 1 of these as a possible inherited disorder...
  10. doi request reprint Parents' experiences of expanded newborn screening evaluations
    Jane M Deluca
    University of Rochester, School of Nursing, 601 Elmwood Ave, Box SON, Rochester, NY 14642, USA
    Pediatrics 128:53-61. 2011
    ..Abnormal results of newborn screening for common metabolic diseases are known to create substantial distress for parents. We explored parents' perceptions during diagnostic evaluations for newer disorders that are less well understood...
  11. doi request reprint Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening
    Georgianne L Arnold
    Department of Pediatrics, University of Pittsburgh Medical Center, Pittsburgh, PA, USA
    Mol Genet Metab 106:439-41. 2012
    ..However newborn screening has identified a higher than expected incidence of this disorder with apparent normal outcome in most cases...
  12. ncbi request reprint Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food
    Steven Yannicelli
    Ross Products Division, Abbott Laboratories, 625 Cleveland Avenue, Columbus, OH 43215 1724, USA
    Mol Genet Metab 80:181-8. 2003
    ..Failure-to-thrive (FTT) has been described in patients with organic acidemias treated with low protein diets...

Research Grants2

  1. Attentional Dysfunction in Children with Phenylketonuria
    Georgianne Arnold; Fiscal Year: 2007
    ....