Research Topics
| Georgianne L ArnoldSummaryAffiliation: University of Rochester Country: USA Publications
Research Grants
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Detail Information
Publications
Iron and protein sufficiency and red cell indices in phenylketonuriaG 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...
Plasma amino acids profiles in children with autism: potential risk of nutritional deficienciesGeorgianne 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...
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York StateGeorgianne 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...
Prevalence of stimulant use for attentional dysfunction in children with phenylketonuriaG 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...
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiencyGeorgianne 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...
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiencyGeorgianne 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...
Protein insufficiency and linear growth restriction in phenylketonuriaGeorgianne L Arnold
Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642, USA
J Pediatr 141:243-6. 2002..We suggest that a plasma prealbumin level of at least 20 mg/dL is necessary for optimal growth in children with PKU...
Universal nephroblastomatosis with bilateral hyperplastic nephromegaly in siblingsPhilip 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...
Internet use by parents of infants with positive newborn screensJane 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...
Parents' experiences of expanded newborn screening evaluationsJane 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...
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screeningGeorgianne 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...
Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical foodSteven Yannicelli
Ross Products Division, Abbott Laboratories, 625 Cleveland Avenue, Columbus, OH 43215-1724, USA
Mol Genet Metab 80:181-8. 2003..Providing energy and protein for patients with FTT at intakes recommended for catch-up growth may have resulted in even better growth...
Research Grants
- Attentional Dysfunction in Children with PhenylketonuriaGeorgianne Arnold; Fiscal Year: 2007....
