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Related Research Units

Genetics and Genomics Research

Research Overview

Dr. Susan Waisbren's research interests include long-term outcomes in metabolic and other genetic disorders. She has conducted studies in newborn screening outcomes and parental response to expanded newborn screening, investigating the impact of true and false positive identifications in terms of parental stress and utilization of healthcare resources.

Current Research

  1. Neuroimaging in Metabolic Disorders: In collaboration with neurologists and experts in MRI Spectroscopy, Dr. Waisbren is investigating the underlying pathology in phenylketonuria (PKU), Galactosemia, and Urea Cycle Disorders. Through innovative imaging techniques in combination with neuropsychological evaluations, the research team aims to clarify the reasons for diverse outcomes in these metabolic disorders.

  2. Longitudinal Study in Urea Cycle Disorders: This large collaborative study prospectively collects information on children and adults with Urea Cycle Disorders. Currently in its 12th year, the study includes a sample of over 600 individuals who receive multiple neuropsychological and other evaluations so that the long-term outcome in relation to varied treatment modalities can be better understood.

  3. Clinical Trials: Dr. Waisbren and her large team of research assistants are involved in potentially disease-altering clinical trials for PKU, Urea Cycle Disorders, Lysosomal Storage Diseases, Niemann-Pick Disease, and fatty-acid oxidation disorders.

Research Background

Dr. Waisbren received her undergraduate training at Yale University in New Haven, Connecticut and her doctorate in Clinical Psychology from the University of California, Berkeley in 1978. She serves as the psychologist for the Metabolism and Genetics Clinics at Boston Children’s Hospital, a position she has held for 39 years. Her clinical work includes neuropsychological evaluations in children with metabolic and other genetic disorders and counseling of families after an abnormal newborn screening result. She served as the coordinating psychologist for the national Maternal PKU Collaborative Study and is the lead psychologist for the Longitudinal Study for the National Urea Cycle Disorders Consortium. Dr. Waisbren served as the director of the National Work Group on Transition to Adult Health Care. She is founding director of the New England Consortium of Metabolic Programs.

Selected Publications

Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, Eaton RB, Greenstein R, Korson M, Larson C, Marsden D, Msall M, Naylor EW, Pueschel S, Seashore M, Shih VE, Levy HL. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 2003; 290(19):2564-72.

Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, Rubio-Gozalbo E, Schomer D, Welt C, Anastasoaie V, D'Anna K, Gentile J, Guo CY, Hecht L, Jackson R, Jansma BM, Li Y, Lip V, Miller DT, Murray M, Power L, Quinn N, Rohr F, Shen Y, Skinder-Meredith A, Timmers I, Tunick R, Wessel A, Wu BL, Levy H, Elsas L, Berry GT. The Adult Galactosemic Phenotype. J Inherit Metab Dis. 2012; 35(2):279-86.

Waisbren S, Rohr F, Anastasoaie V, Brown M, Harris D, Ozonoff A, Petrides S, Wessel A, Levy H. Maternal phenylketonuria: long-term outcomes in offspring and post-pregnancy maternal characteristics. JIMD Rep. 2015; 21:23-33.

Waisbren SE, Bäck DK, Liu C, Kalia SS, Ringer SA, Holm IA, Green RC. Parents are interested in newborn genomic testing during the early postpartum period. Genet Med. 2015; 17(6):501-4.

Publications

  1. Beyond neuropsychological tests: AI speech analysis in PKU. J Inherit Metab Dis. 2025 01; 48(1):e12831. View Abstract
  2. Perspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening. Am J Med Genet C Semin Med Genet. 2024 Nov; 196(2-3):e32111. View Abstract
  3. Neurocognitive assessment platform for clinical trials in PKU: White paper developed by the NPKUA neurocognitive workgroup. Mol Genet Metab. 2024 Sep-Oct; 143(1-2):108555. View Abstract
  4. Brain function in classic galactosemia, a galactosemia network (GalNet) members review. Front Genet. 2024; 15:1355962. View Abstract
  5. Parent knowledge regarding food selection for children with PKU: Results of a survey in the United States. Nutrition. 2023 12; 116:112201. View Abstract
  6. Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study. Mol Genet Metab Rep. 2023 Mar; 34:100953. View Abstract
  7. Reinstitution of pegvaliase therapy during lactation. Mol Genet Metab Rep. 2022 Dec; 33:100938. View Abstract
  8. Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments. Metab Brain Dis. 2022 06; 37(5):1317-1335. View Abstract
  9. Analysis of cognitive ability and adaptive behavior assessment tools used in an observational study of patients with mucopolysaccharidosis II. Orphanet J Rare Dis. 2021 12 04; 16(1):501. View Abstract
  10. Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria. Am J Med Genet A. 2022 03; 188(3):768-778. View Abstract
  11. Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial. JAMA Pediatr. 2021 11 01; 175(11):1132-1141. View Abstract
  12. Adaptation and Validation of a Questionnaire to Evaluate Knowledge of the Low Phe Diet in PKU. Nutrients. 2021 Aug 07; 13(8). View Abstract
  13. Transient developmental delays in infants with Duarte-2 variant galactosemia. Mol Genet Metab. 2021 Sep-Oct; 134(1-2):132-138. View Abstract
  14. Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression. J Genet Couns. 2022 02; 31(1):218-229. View Abstract
  15. Newborn Screening and Treatment of Phenylketonuria: Projected Health Outcomes and Cost-Effectiveness. Children (Basel). 2021 May 12; 8(5). View Abstract
  16. Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis. Mol Genet Metab. 2021 02; 132(2):119-127. View Abstract
  17. Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders. Am J Intellect Dev Disabil. 2020 11 01; 125(6):475-480. View Abstract
  18. Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia. J Inherit Metab Dis. 2020 11; 43(6):1205-1218. View Abstract
  19. Developmental Support for Infants With Genetic Disorders. Pediatrics. 2020 05; 145(5). View Abstract
  20. Executive function in phenylketonuria (PKU): Insights from the Behavior Rating Inventory of Executive Function (BRIEF) and a large sample of individuals with PKU. Neuropsychology. 2020 May; 34(4):456-466. View Abstract
  21. A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. Orphanet J Rare Dis. 2019 10 22; 14(1):232. View Abstract
  22. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652. View Abstract
  23. Neuropsychological attributes of urea cycle disorders: A systematic review of the literature. J Inherit Metab Dis. 2019 11; 42(6):1176-1191. View Abstract
  24. The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet J Rare Dis. 2019 04 27; 14(1):86. View Abstract
  25. Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase. JIMD Rep. 2019 Mar; 46(1):63-69. View Abstract
  26. Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events. J Inherit Metab Dis. 2019 03; 42(2):243-253. View Abstract
  27. The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency. Mol Genet Metab. 2019 04; 126(4):368-376. View Abstract
  28. Revising the Psychiatric Phenotype of Homocystinuria. Genet Med. 2019 08; 21(8):1827-1831. View Abstract
  29. Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genet Med. 2019 03; 21(3):622-630. View Abstract
  30. Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria. Mol Genet Metab. 2018 11; 125(3):228-234. View Abstract
  31. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 07 09; 18(1):225. View Abstract
  32. Biochemical markers and neuropsychological functioning in distal urea cycle disorders. J Inherit Metab Dis. 2018 07; 41(4):657-667. View Abstract
  33. Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female. JIMD Rep. 2018; 40:17-22. View Abstract
  34. Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations. Genet Med. 2017 12; 19(12). View Abstract
  35. Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation. Mol Genet Metab Rep. 2017 Jun; 11:54-58. View Abstract
  36. Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia. JIMD Rep. 2017; 37:115-123. View Abstract
  37. Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma. Mol Genet Metab. 2017 05; 121(1):9-15. View Abstract
  38. Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease. J Inherit Metab Dis. 2017 03; 40(2):209-218. View Abstract
  39. Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis. JIMD Rep. 2017; 35:87-96. View Abstract
  40. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis. 2017 03; 40(2):171-176. View Abstract
  41. Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria. JIMD Rep. 2017; 34:77-86. View Abstract
  42. Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. J Inherit Metab Dis. 2016 07; 39(4):573-84. View Abstract
  43. Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions. Mol Genet Metab. 2016 06; 118(2):65-9. View Abstract
  44. Psychosocial Factors Influencing Parental Interest in Genomic Sequencing of Newborns. Pediatrics. 2016 Jan; 137 Suppl 1:S30-5. View Abstract
  45. Cognitive functioning in mild hyperphenylalaninemia. Mol Genet Metab Rep. 2015 Dec; 5:72-75. View Abstract
  46. Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics. JIMD Rep. 2015; 21:23-33. View Abstract
  47. Assessing Psychological Functioning in Metabolic Disorders: Validation of the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavior Rating Inventory of Executive Function (BRIEF) for Identification of Individuals at Risk. JIMD Rep. 2015; 21:35-43. View Abstract
  48. Parents are interested in newborn genomic testing during the early postpartum period. Genet Med. 2015 Jun; 17(6):501-4. View Abstract
  49. A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria. Mol Genet Metab. 2015 Mar; 114(3):415-24. View Abstract
  50. Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy. Genet Med. 2015 May; 17(5):365-73. View Abstract
  51. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014 Jun; 112(2):87-122. View Abstract
  52. Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. Dev Disabil Res Rev. 2013; 17(3):260-8. View Abstract
  53. Erratum to: Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis. 2012 Nov; 35(6):1157. View Abstract
  54. Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis. 2012 Nov; 35(6):1037-49. View Abstract
  55. Mid-gestational maternal free thyroxine concentration and offspring neurocognitive development at age two years. J Clin Endocrinol Metab. 2012 Jan; 97(1):E22-8. View Abstract
  56. A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet A. 2011 Dec; 155A(12):2956-63. View Abstract
  57. The adult galactosemic phenotype. J Inherit Metab Dis. 2012 Mar; 35(2):279-86. View Abstract
  58. Psychosocial developmental milestones in men with classic galactosemia. J Inherit Metab Dis. 2011 Apr; 34(2):415-9. View Abstract
  59. Angelman syndrome: Mutations influence features in early childhood. Am J Med Genet A. 2011 Jan; 155A(1):81-90. View Abstract
  60. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. J Dev Behav Pediatr. 2010 Sep; 31(7):592-601. View Abstract
  61. Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am J Med Genet A. 2010 Aug; 152A(8):1994-2001. View Abstract
  62. Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. Mol Genet Metab. 2010 Sep; 101(1):33-9. View Abstract
  63. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab. 2010; 100 Suppl 1:S97-105. View Abstract
  64. The psychology and neuropathology of phenylketonuria. Mol Genet Metab. 2010; 99 Suppl 1:S1-2. View Abstract
  65. Final commentary: a new chapter. Mol Genet Metab. 2010; 99 Suppl 1:S106-7. View Abstract
  66. Psychiatric symptoms and disorders in phenylketonuria. Mol Genet Metab. 2010; 99 Suppl 1:S59-63. View Abstract
  67. Psychosocial issues and outcomes in maternal PKU. Mol Genet Metab. 2010; 99 Suppl 1:S68-74. View Abstract
  68. Screening for cognitive and social-emotional problems in individuals with PKU: tools for use in the metabolic clinic. Mol Genet Metab. 2010; 99 Suppl 1:S96-9. View Abstract
  69. Impact of false-positive newborn metabolic screening results on early health care utilization. Genet Med. 2009 Oct; 11(10):716-21. View Abstract
  70. 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet. 2009 Mar; 46(3):168-75. View Abstract
  71. Parental tolerance of false-positive newborn screening results. Arch Pediatr Adolesc Med. 2008 Sep; 162(9):870-6. View Abstract
  72. Parental Tolerance for False-Positive Newborn Screening Results. Arch Ped Adol Med. 2008; 162(9):870-6. View Abstract
  73. Stability of blood phenylalanine levels and IQ in children with phenylketonuria. Mol Genet Metab. 2008 Sep-Oct; 95(1-2):17-20. View Abstract
  74. Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms. Mol Genet Metab. 2008 Sep-Oct; 95(1-2):39-45. View Abstract
  75. Expanded newborn screening: information and resources for the family physician. Am Fam Physician. 2008 Apr 01; 77(7):987-94. View Abstract
  76. Gender differences in research grant applications and funding outcomes for medical school faculty. J Womens Health (Larchmt). 2008 Mar; 17(2):207-14. View Abstract
  77. Cognitive and psychological profile of males with Becker muscular dystrophy. J Child Neurol. 2008 Feb; 23(2):155-62. View Abstract
  78. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol Genet Metab. 2007 Sep-Oct; 92(1-2):63-70. View Abstract
  79. Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur J Hum Genet. 2007 Sep; 15(9):943-9. View Abstract
  80. Phenylalanine blood levels and clinical outcomes in phenylketonuria: A systematic literature review and meta-analysis. Molec Genet Metab. 2007; 92(1-2):63-70. View Abstract
  81. Newborn screening for metabolic disorders. JAMA. 2006 Aug 23; 296(8):993-5. View Abstract
  82. A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening. J Inherit Metab Dis. 2006 Oct; 29(5):677-82. View Abstract
  83. PKU Tool Kit for Transition to Adult Healthcare. 2006. View Abstract
  84. Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics. 2006 Jun; 117(6):1915-21. View Abstract
  85. Follow-up to Newborn Screening: A Guide for Parents. 2006. View Abstract
  86. Newborn Screening Follow-up Question and Answer Fact Sheet. 2006. View Abstract
  87. The knowledge gap in expanded newborn screening: survey results from paediatricians in Massachusetts. J Inherit Metab Dis. 2005; 28(6):819-24. View Abstract
  88. Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study. Neuropsychology. 2004 Oct; 18(4):658-64. View Abstract
  89. Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders. J Pediatr Psychol. 2004 Oct; 29(7):565-70. View Abstract
  90. Child and parent attributions in chronic pediatric conditions: phenylketonuria (PKU) as an exemplar. J Child Psychol Psychiatry. 2004 Mar; 45(3):622-30. View Abstract
  91. Expanded screening of newborns for genetic disorders. JAMA. 2004 Feb 18; 291(7):820-1; author reply 821. View Abstract
  92. The Resource Mothers Study of Maternal Phenylketonuria: preliminary findings. J Inherit Metab Dis. 2004; 27(2):145-55. View Abstract
  93. Maternal histidinaemia: pregnancies and offspring outcomes. J Inherit Metab Dis. 2004; 27(2):197-204. View Abstract
  94. Maternal Phenylketonuria Collaborative Study (MPKUCS)--the 'outliers'. J Inherit Metab Dis. 2004; 27(6):711-23. View Abstract
  95. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. Obstet Gynecol Surv. 2004; 59(6):415-417. View Abstract
  96. The Maternal Phenylketonuria International Study: 1984-2002. Pediatrics. 2003 Dec; 112(6 Pt 2):1523-9. View Abstract
  97. Cognitive and behavioral development in maternal phenylketonuria offspring. Pediatrics. 2003 Dec; 112(6 Pt 2):1544-7. View Abstract
  98. Pregnancy experiences in the woman with mild hyperphenylalaninemia. Pediatrics. 2003 Dec; 112(6 Pt 2):1548-52. View Abstract
  99. Developmental timing of exposure to elevated levels of phenylalanine is associated with ADHD symptom expression. J Abnorm Child Psychol. 2003 Dec; 31(6):565-74. View Abstract
  100. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 2003 Nov 19; 290(19):2564-72. View Abstract
  101. Timing is everything: executive functions in children exposed to elevated levels of phenylalanine. Neuropsychology. 2003 Jul; 17(3):458-68. View Abstract
  102. Iodine sufficiency and measurements of thyroid function in maternal hypothyroidism. Clin Endocrinol (Oxf). 2003 May; 58(5):612-6. View Abstract
  103. Newborn screening compared to clinical identification of biochemical genetic disorders. J Inherit Metab Dis. 2002 Nov; 25(7):599-600. View Abstract
  104. Maternal phenylketonuria: a case study suggesting the use of prenatal psychotherapy to help control phenylalanine levels. Am J Orthopsychiatry. 2002 Oct; 72(4):577-84. View Abstract
  105. Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis. 2002 Aug; 25(4):299-314. View Abstract
  106. Barriers to successful dietary control among pregnant women with phenylketonuria. Genet Med. 2002 Mar-Apr; 4(2):84-9. View Abstract
  107. Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency. Lancet. 2002 Feb 16; 359(9306):628. View Abstract
  108. www.childrenshospital.org/newenglandconsortium. 2002. View Abstract
  109. PKU adults and their return to diet: predicting diet continuation and maintenance. J Inherit Metab Dis. 2001 Aug; 24(4):515-6. View Abstract
  110. New England Consortium: a model for medical evaluation of expanded newborn screening with tandem mass spectrometry. J Inherit Metab Dis. 2001 Apr; 24(2):303-4. View Abstract
  111. Relation of severity of maternal hypothyroidism to cognitive development of offspring. J Med Screen. 2001; 8(1):18-20. View Abstract
  112. PKU Primer for Community Health Care Providers Treating Adolescents and Adults with PKU. 2001. View Abstract
  113. Expanded newborn screening for metabolic diosrders: a giant leap forward in preventive medicine or Pandora's box?. J Law, Med Ethics. 2001; 29(2 Suppl (11)). View Abstract
  114. Comments on cognition and intelligence in phenylketonuria. Eur J Pediatr. 2000 Oct; 159 Suppl 2:S80-1. View Abstract
  115. The International Collaborative Study of Maternal Phenylketonuria: status report 1998. Eur J Pediatr. 2000 Oct; 159 Suppl 2:S156-60. View Abstract
  116. High cognitive outcome in an adolescent with mut- methylmalonic acidemia. Am J Med Genet. 2000 Apr 03; 96(2):192-5. View Abstract
  117. Outcome at age 4 years in offspring of women with maternal phenylketonuria: the Maternal PKU Collaborative Study. JAMA. 2000 Feb 09; 283(6):756-62. View Abstract
  118. Maternal gamma-cystathionase deficiency: absence of both teratogenic effects and pregnancy complications. Am J Obstet Gynecol. 1999 Sep; 181(3):753-5. View Abstract
  119. Maternal thyroid deficiency during pregnancy and subsequent neuropsychological development of the child. N Engl J Med. 1999 Aug 19; 341(8):549-55. View Abstract
  120. Personality profiles of mothers of children with mitochondrial disorders. J Inherit Metab Dis. 1999 Jun; 22(5):615-22. View Abstract
  121. The Resource Mothers Program for Maternal Phenylketonuria. Am J Public Health. 1999 May; 89(5):762-4. View Abstract
  122. Developmental and neuropsychological outcome in children born to mothers with phenylketonuria. Mental Retardation and Developmental Disabilities Research Reviews. 1999; 5:125-131. View Abstract
  123. Neonatal neurological assessment of offspring in maternal phenylketonuria. J Inherit Metab Dis. 1998 Feb; 21(1):39-48. View Abstract
  124. Breaking the barriers to full participation even when you have PKU. Family Futures Magazine. 1998; 2:19-21. View Abstract
  125. Social factors and the meaning of food in adherence to medical diets: results of a maternal phenylketonuria summer camp. J Inherit Metab Dis. 1997 Mar; 20(1):21-7. View Abstract
  126. Hydroxyprolinemia: comparison of a patient and her unaffected twin sister. J Pediatr. 1997 Mar; 130(3):437-41. View Abstract
  127. Social support programs for individuals with PKU and their families. Proceedings of the 11th European Society for Phenylketonuria Annual Meeting. 1997; 11:11-15. View Abstract
  128. Make a World of Difference: A Manual for Organizing a Maternal PKU Camp. 1997. View Abstract
  129. Maternal PKU Treatment Plan. 1997. View Abstract
  130. The Resource Mothers' Book. 1997. View Abstract
  131. Maternal non-phenylketonuric mild hyperphenylalaninemia. Eur J Pediatr. 1996 Jul; 155 Suppl 1:S20-5. View Abstract
  132. Psychosocial factors in maternal phenylketonuria: women's adherence to medical recommendations. Am J Public Health. 1995 Dec; 85(12):1636-41. View Abstract
  133. Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management. J Pediatr. 1995 Jun; 126(6):916-22. View Abstract
  134. Newborn Screening and Societal Impact: A Case Study of Maternal PKU. 1995. View Abstract
  135. Maternal mild hyperphenylalaninaemia: an international survey of offspring outcome. Lancet. 1994 Dec 10; 344(8937):1589-94. View Abstract
  136. PKU in adolescents: rationale and psychosocial factors in diet continuation. Acta Paediatr Suppl. 1994 Dec; 407:92-7. View Abstract
  137. Review of neuropsychological functioning in treated phenylketonuria: an information processing approach. Acta Paediatr Suppl. 1994 Dec; 407:98-103. View Abstract
  138. Personality disorder in young women with treated phenylketonuria. J Inherit Metab Dis. 1994; 17(5):584-92. View Abstract
  139. Unplanned pregnancies in young women with diabetes. An analysis of psychosocial factors. Diabetes Care. 1993 Dec; 16(12):1572-8. View Abstract
  140. Phenylketonuria. Handbook of Neurodevelopmental and Genetic Disorders in Children. 1993; 433-458. View Abstract
  141. Psychosocial factors in maternal phenylketonuria: prevention of unplanned pregnancies. Am J Public Health. 1991 Mar; 81(3):299-304. View Abstract
  142. Agoraphobia in phenylketonuria. J Inherit Metab Dis. 1991; 14(5):755-64. View Abstract
  143. The development of a patient knowledge test on maternal phenylketonuria. Patient Educ Couns. 1990 Oct; 16(2):139-46. View Abstract
  144. Effects of untreated maternal hyperphenylalaninemia on the fetus: further study of families identified by routine cord blood screening. J Pediatr. 1990 Jun; 116(6):926-9. View Abstract
  145. A psychosocial model of a medical problem: Maternal phenylketonuria. J Prim Prev. 1989 Sep; 10(1):51-62. View Abstract
  146. The New England Maternal PKU Project: identification of at-risk women. Am J Public Health. 1988 Jul; 78(7):789-92. View Abstract
  147. New England Maternal PKU Project: prospective study of untreated and treated pregnancies and their outcomes. J Pediatr. 1987 Mar; 110(3):391-8. View Abstract
  148. Predictors of intelligence quotient and intelligence quotient change in persons treated for phenylketonuria early in life. Pediatrics. 1987 Mar; 79(3):351-5. View Abstract
  149. The PKU Paradigm: The mixed results from early dietary treatment. Amino Acids in Health and Disease: New Perspectives. 1987; 539-551. View Abstract
  150. Intelligence and personality characteristics in adults with untreated atypical phenylketonuria and mild hyperphenylalaninemia. J Pediatr. 1984 Dec; 105(6):955-8. View Abstract
  151. Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. N Engl J Med. 1983 Nov 24; 309(21):1269-74. View Abstract
  152. Speech and language deficits in early-treated children with galactosemia. J Pediatr. 1983 Jan; 102(1):75-7. View Abstract
  153. Diet termination in children with phenylketonuria: a review of psychological assessments used to determine outcome. J Inherit Metab Dis. 1980; 3(4):149-53. View Abstract
  154. Parents' reactions after the birth of a developmentally disabled child. Am J Ment Defic. 1980 Jan; 84(4):345-51. View Abstract
  155. Diet termination in children with phenylketonuria. A review of psychological assessments used to determine outcome. J Inher Met Dis. 1980; 3:149-153. View Abstract
  156. Parents' reactions after the birth of a developmentally delayed child. 1978. View Abstract

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