Skip to main content
PMC home page
California Medicine logoLink to California Medicine
. 1971 Jul;115(1):42–57.

Phenylketonuria and its variations. A review of recent developments.

M E Blaskovics, T L Nelson
PMCID: PMC1517901  PMID: 4935772

Full text

PDF

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. ALLEN R. J., GIBSON R. M. Phenylketonuria with normal intelligence. Am J Dis Child. 1961 Jul;102:115–122. doi: 10.1001/archpedi.1961.02080010117019. [DOI] [PubMed] [Google Scholar]
  2. ARMSTRONG M. D., CARLISLE J. W., LOW N. L. Phenylketonuria; two unusual cases. Lancet. 1956 Nov 3;271(6949):917–918. [PubMed] [Google Scholar]
  3. ARMSTRONG M. D., LOW N. L. Phenylketonuria VIII. Relation between age, serum phenylalanine level, and phenylpyruvic acid excretion. Proc Soc Exp Biol Med. 1957 Jan;94(1):142–146. doi: 10.3181/00379727-94-22880. [DOI] [PubMed] [Google Scholar]
  4. Anderson V. E., Siegel F. S., Fisch R. O., Wirt R. D. Responses of phenylketonuric children on a continuous performance test. J Abnorm Psychol. 1969 Jun;74(3):358–362. doi: 10.1037/h0027611. [DOI] [PubMed] [Google Scholar]
  5. Aoki K., Siegel F. L. Hyperphenylalaninemia: disaggregation of brain polyribosomes in young rats. Science. 1970 Apr 3;168(3927):129–130. doi: 10.1126/science.168.3927.129. [DOI] [PubMed] [Google Scholar]
  6. Arthur L. J., Hulme J. D. Intelligent, small for dates baby born to oligophrenic phenylketonuric mother after low phenylalanine diet during pregnancy. Pediatrics. 1970 Aug;46(2):235–239. [PubMed] [Google Scholar]
  7. Avery M. E., Clow C. L., Menkes J. H., Ramos A., Scriver C. R., Stern L., Wasserman B. P. Transient tyrosinemia of the newborn: dietary and clinical aspects. Pediatrics. 1967 Mar;39(3):378–384. [PubMed] [Google Scholar]
  8. BICKEL H., GERRARD J., HICKMANS E. M. Influence of phenylalanine intake on phenylketonuria. Lancet. 1953 Oct 17;265(6790):812–813. doi: 10.1016/s0140-6736(53)90473-5. [DOI] [PubMed] [Google Scholar]
  9. Barbesier J., Boisse J., Charpentier C., Lemonnier A., Mozziconacci P. Le dépistage de masse de la phénylcétonurie. Rapport d'activité d'un centre de dépistage (Octobre 1967-Décembre 1968) Presse Med. 1969 Sep 13;77(37):1279–1282. [PubMed] [Google Scholar]
  10. Berman J. L., Cunningham G. C., Day R. W., Ford R., Hsia D. Y. Causes for high phenylalanine with normal tyrosine in newborn screening programs. Am J Dis Child. 1969 Jan;117(1):54–65. doi: 10.1001/archpedi.1969.02100030056006. [DOI] [PubMed] [Google Scholar]
  11. Berman J. L., Justice P., Hsia D. Y. Effect of vitamin B 6 on blood 5-hydroxytryptamine concentration. Ann N Y Acad Sci. 1969 Sep 30;166(1):97–108. doi: 10.1111/j.1749-6632.1969.tb54260.x. [DOI] [PubMed] [Google Scholar]
  12. Bessman S. P. Legislation and advances in medical knowledge--acceleration or inhibition? J Pediatr. 1966 Aug;69(2):334–338. doi: 10.1016/s0022-3476(66)80350-5. [DOI] [PubMed] [Google Scholar]
  13. Blake E. E., Rasberry G. W., Long E. E. The results of PKU screening in the Georgia public health laboratories January 1967--June 1968. J Med Assoc Ga. 1969 Mar;58(3):117–120. [PubMed] [Google Scholar]
  14. Breslow L. Public health report. Calif Med. 1967 Dec;107(6):541–542. [PMC free article] [PubMed] [Google Scholar]
  15. CARVER M. J., WITTSON C. An inborn error of metabolism--phenylketonuria. Nebr State Med J. 1960 Mar;45:101–105. [PubMed] [Google Scholar]
  16. CENTERWALL W. R., CENTERWALL S. A., ARMON V., MANN L. B. Phenylketonuria. II. Results of treatment of infants and young children. A report of 10 cases. J Pediatr. 1961 Jul;59:102–118. doi: 10.1016/s0022-3476(61)80217-5. [DOI] [PubMed] [Google Scholar]
  17. COATES S., NORMAN A. P., WOOLF L. I. Phenylketonuria with normal intelligence and Gowers' muscular dystrophy. Arch Dis Child. 1957 Aug;32(164):313–317. doi: 10.1136/adc.32.164.313. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. COFFELT R. W. UNEXPECTED FINDING FROM A PKU NEWBORN SCREENING PROGRAM. Pediatrics. 1964 Dec;34:889–890. [PubMed] [Google Scholar]
  19. COWIE V. A. An atypical case of phenylketonuria. Lancet. 1951 Feb 3;1(6649):272–272. doi: 10.1016/s0140-6736(51)93320-x. [DOI] [PubMed] [Google Scholar]
  20. CRUMPLER H. R., DENT C. E., LINDAN O. The amino-acid pattern in human foetal and maternal plasma at delivery. Biochem J. 1950 Aug;47(2):223–227. doi: 10.1042/bj0470223. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Cahalane S. F. Phenylketonuria. Mass screening of newborns in Ireland. Arch Dis Child. 1968 Apr;43(228):141–144. doi: 10.1136/adc.43.228.141. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Chase H. P., O'Brien D. Effect of excess phenylalanine and of other amino acids on brain development in the infant rat. Pediatr Res. 1970 Jan;4(1):96–102. doi: 10.1203/00006450-197001000-00012. [DOI] [PubMed] [Google Scholar]
  23. Clayton B. E., Moncrieff A. A., Pampiglione G., Shepherd J. Biochemical and EEG studies in phenylketonuric children during phenylalanine tolerance testc. Arch Dis Child. 1966 Jun;41(217):267–272. doi: 10.1136/adc.41.217.267. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Cohen B. E., Szeinberg A., Peled I., Szeinberg B., Bar-Or R. Screening program for early detection of phenylketonuria in the newborn in Israel. Isr J Med Sci. 1966 Mar-Apr;2(2):156–164. [PubMed] [Google Scholar]
  25. Colombo J. P., Vassella F., Humbel R., Rossi E. Phenylketonuria, a family study. Borderline intelligence in two siblings with mentally retarded children. Helv Paediatr Acta. 1967 Jul;22(3):243–251. [PubMed] [Google Scholar]
  26. Coulson W. F., Bray P. F. An association of phenylketonuria with ulegyria. Dis Nerv Syst. 1969 Feb;30(2):129–132. [PubMed] [Google Scholar]
  27. Cumings J. N., Grundt I. K., Yanagihara T. Lipid changes in the brain in phenylketonuria. J Neurol Neurosurg Psychiatry. 1968 Aug;31(4):334–337. doi: 10.1136/jnnp.31.4.334. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. DRISCOLL K. W., HSIA D. Y., KNOX W. E., TROLL W. Detection by phenylalanine tolerance tests of heterozygous carriers of phenylketonuria. Nature. 1956 Dec 1;178(4544):1239–1240. doi: 10.1038/1781239a0. [DOI] [PubMed] [Google Scholar]
  29. Dobson J., Koch R., Williamson M., Spector R., Frankenburg W., O'Flynn M., Warner R., Hudson F. Cognitive development and dietary therapy in phenylketonuric children. N Engl J Med. 1968 May 23;278(21):1142–1144. doi: 10.1056/NEJM196805232782103. [DOI] [PubMed] [Google Scholar]
  30. Dobson J., Williamson M. Provocative observation in the PKU collaborative study. N Engl J Med. 1970 May 7;282(19):1104–1104. doi: 10.1056/nejm197005072821921. [DOI] [PubMed] [Google Scholar]
  31. Efron M. L., Kang E. S., Visakorpi J., Fellers F. X. Effect of elevated plasma phenylalanine levels on other amino acids in phenylketonuric and normal subjects. J Pediatr. 1969 Mar;74(3):399–405. doi: 10.1016/s0022-3476(69)80197-6. [DOI] [PubMed] [Google Scholar]
  32. FOIS A., ROSENBERG C., GIBBS F. A. The electroencephalogram in phenylpyruvic oligophrenia. Electroencephalogr Clin Neurophysiol. 1955 Nov;7(4):569–572. doi: 10.1016/0013-4694(55)90082-1. [DOI] [PubMed] [Google Scholar]
  33. Fisch R. O., Jenness R., Doeden D., Anderson J. A. The effect of excess L-phenylalamine on mothers and on their breast-fed infants. J Pediatr. 1967 Aug;71(2):176–180. doi: 10.1016/s0022-3476(67)80069-6. [DOI] [PubMed] [Google Scholar]
  34. Fisch R. O., Torres F., Gravem H. J., Greenwood C. S., Anderson J. A. Twelve years of clinical experience with phenylketonuria. A statistical evaluation of symptoms, growth, mental development, electroencephalographic records, serum phenylalanine levels, and results of dietary management. Neurology. 1969 Jul;19(7):659–666. doi: 10.1212/wnl.19.7.659. [DOI] [PubMed] [Google Scholar]
  35. Fisch R. O., Walker W. A., Anderson J. A. Prenatal and postnatal developmental consequences of maternal phenylketonuria. Pediatrics. 1966 Jun;37(6):979–986. [PubMed] [Google Scholar]
  36. Forbes N. P., Shaw K. N., Koch R., Coffelt R. W., Straus R. Maternal phenylketonuria. Nurs Outlook. 1966 Jan;14(1):40–42. [PubMed] [Google Scholar]
  37. Forssman H., Kristensson K., Sourander P., Svennerholm L. Histological and chemical studies of a case of phenylketonuria with long survival. J Ment Defic Res. 1967 Sep;11(3):194–206. doi: 10.1111/j.1365-2788.1967.tb00220.x. [DOI] [PubMed] [Google Scholar]
  38. Frankenburg W. K., Duncan B. R., Coffelt R. W., Koch R., Coldwell J. G., Son C. D. Maternal phenylketonuria: implications for growth and development. J Pediatr. 1968 Oct;73(4):560–570. doi: 10.1016/s0022-3476(68)80271-9. [DOI] [PubMed] [Google Scholar]
  39. Frankenburg W. K., Duncan B. R., Coffelt R. W., Koch R., Coldwell J. G., Son C. D. Maternal phenylketonuria: implications for growth and development. J Pediatr. 1968 Oct;73(4):560–570. doi: 10.1016/s0022-3476(68)80271-9. [DOI] [PubMed] [Google Scholar]
  40. Fuller R. N., Shuman J. B. Phenylketonuria and intelligence: trimodal response to dietary treatment. Nature. 1969 Feb 15;221(5181):639–642. doi: 10.1038/221639a0. [DOI] [PubMed] [Google Scholar]
  41. GHADIMI H., PARTINGTON M. W., HUNTER A. A familial disturbance of histidine metabolism. N Engl J Med. 1961 Aug 3;265:221–224. doi: 10.1056/NEJM196108032650504. [DOI] [PubMed] [Google Scholar]
  42. GUTHRIE R., SUSI A. A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS. Pediatrics. 1963 Sep;32:338–343. [PubMed] [Google Scholar]
  43. Gerstl B., Malamud N., Eng L. F., Hayman R. B. Lipid alterations in human brains in phenylketonuria. Neurology. 1967 Jan;17(1):51–passim. doi: 10.1212/wnl.17.1.51. [DOI] [PubMed] [Google Scholar]
  44. HSIA D. Y., KNOX W. E., PAINE R. S. A case of phenylketonuria with borderline intelligence. AMA J Dis Child. 1957 Jul;94(1):33–39. doi: 10.1001/archpedi.1957.04030020035008. [DOI] [PubMed] [Google Scholar]
  45. Hanley W. B. Sex ratio in phenylketonuria. Lancet. 1970 Jul 18;2(7664):150–151. doi: 10.1016/s0140-6736(70)92731-5. [DOI] [PubMed] [Google Scholar]
  46. Hirsch W. Finger, hand and foot prints in phenylketonuria as compared with other normal and abnormal populations. Humangenetik. 1965;1(3):246–252. doi: 10.1007/BF00395655. [DOI] [PubMed] [Google Scholar]
  47. Hsia D. Y., Dobson J. Altered sex ratio among phenylketonuric infants ascertained by screening the newborn. Lancet. 1970 May 2;1(7653):905–908. doi: 10.1016/s0140-6736(70)91043-3. [DOI] [PubMed] [Google Scholar]
  48. Hsia D. Y., O'Flynn M. E., Berman J. L. Atypical phenylketonuria with borderline or normal intelligence. Am J Dis Child. 1968 Aug;116(2):143–157. doi: 10.1001/archpedi.1968.02100020145005. [DOI] [PubMed] [Google Scholar]
  49. JERVIS G. A. Phenylpyruvic oligophrenia (phenylketonuria). Res Publ Assoc Res Nerv Ment Dis. 1954;33:259–282. [PubMed] [Google Scholar]
  50. Johnson R. C. Behavioral characteristics of phenylketonurics and matched controls. Am J Ment Defic. 1969 Jul;74(1):17–19. [PubMed] [Google Scholar]
  51. Justice P., O'Flynn M. E., Hsia D. Y. Phenylalanine-hydroxylase activity in hyperphenylalaninaemia. Lancet. 1967 Apr 29;1(7496):928–929. doi: 10.1016/s0140-6736(67)91490-0. [DOI] [PubMed] [Google Scholar]
  52. KOCH R., FISHLER K., SCHILD S., RAGSDALE N. CLINICAL ASPECTS OF PHENYLKETONURIA. Ment Retard. 1964 Feb;20:47–54. [PubMed] [Google Scholar]
  53. Kakulas B. A., Hamilton G. J., Mastaglia F. L. Clinical and neuropathological observations in phenylketonuria. Proc Aust Assoc Neurol. 1968;5(1):155–158. [PubMed] [Google Scholar]
  54. Katz S. H., Harro D. E. Screening for PKU in New York State. Public Health Rep. 1968 May;83(5):423–426. [PMC free article] [PubMed] [Google Scholar]
  55. Kaufman S. A protein that stimulates rat liver phenylalanine hydroxylase. J Biol Chem. 1970 Sep 25;245(18):4751–4759. [PubMed] [Google Scholar]
  56. Kaufman S., Fisher D. B. Purification and some physical properties of phenylalanine hydroxylase from rat liver. J Biol Chem. 1970 Sep 25;245(18):4745–4750. [PubMed] [Google Scholar]
  57. Kennedy J. L., Jr, Wertelecki W., Gates L., Sperry B. P., Cass V. M. The early treatment of phenylketonuria. Am J Dis Child. 1967 Jan;113(1):16–21. doi: 10.1001/archpedi.1967.02090160066004. [DOI] [PubMed] [Google Scholar]
  58. Kerr G. R., Chamove A. S., Harlow H. F., Waisman H. A. "Fetal PKU:" the effect of maternal hyperphenylalaninemia during pregnancy in the rhesus monkey (Macaca mulatta). Pediatrics. 1968 Jul;42(1):27–36. [PubMed] [Google Scholar]
  59. Knox W. E., Kang E. S. Excess of males among false-positive tests on screening for phenylketonuria. N Engl J Med. 1970 Jul 9;283(2):102–102. doi: 10.1056/NEJM197007092830223. [DOI] [PubMed] [Google Scholar]
  60. Koch R., Shaw K. N., Acosta P. B., Fishler K., Schaeffler G., Wenz E., Wohlers A. An approach to management of phenylketonuria. J Pediatr. 1970 Jun;76(6):815–828. doi: 10.1016/s0022-3476(70)80361-4. [DOI] [PubMed] [Google Scholar]
  61. LANGDELL J. I. PHENYLKETONURIA: EIGHT-YEAR EVALUATION OF TREATMENT. Arch Gen Psychiatry. 1965 Apr;12:363–367. doi: 10.1001/archpsyc.1965.01720340035005. [DOI] [PubMed] [Google Scholar]
  62. LOW N. L., BOSMA J. F., ARMSTRONG M. D. Studies on phenylketonuria. VI. EEG studies in phenylketonuria. AMA Arch Neurol Psychiatry. 1957 Apr;77(4):359–365. doi: 10.1001/archneurpsyc.1957.02330340035003. [DOI] [PubMed] [Google Scholar]
  63. Larson C. A., Nyman G. E. Phenylketonuria: mental illness in heterozygotes. Psychiatr Clin (Basel) 1968;1(6):367–374. doi: 10.1159/000278544. [DOI] [PubMed] [Google Scholar]
  64. Levy H. L., Karolkewicz V., Houghton S. A., MacCready R. A. Screening the "normal" population in Massachusetts for phenylketonuria. N Engl J Med. 1970 Jun 25;282(26):1455–1458. doi: 10.1056/NEJM197006252822604. [DOI] [PubMed] [Google Scholar]
  65. Lund E., Ovnbol A. Occult phenylketonuria. Experience with the Guthrie test. Acta Pathol Microbiol Scand. 1966;67(1):9–14. doi: 10.1111/apm.1966.67.1.9. [DOI] [PubMed] [Google Scholar]
  66. Lund E., Wamberg E. Phenylketonuria in Denmark. A screening programme 1962-1968. Dan Med Bull. 1970 Jan;17(1):13–18. [PubMed] [Google Scholar]
  67. MABRY C. C., DENNISTON J. C., NELSON T. L., SON C. D. MATERNAL PHENYLKETONURIA. A CAUSE OF MENTAL RETARDATION IN CHILDREN WITHOUT THE METABOLIC DEFECT. N Engl J Med. 1963 Dec 26;269:1404–1408. doi: 10.1056/NEJM196312262692604. [DOI] [PubMed] [Google Scholar]
  68. MACCREADY R. A., HUSSEY M. G. NEWBORN PHENYLKETONURIA DETECTION PROGRAM IN MASSACHUSETTS. Am J Public Health Nations Health. 1964 Dec;54:2075–2081. doi: 10.2105/ajph.54.12.2075. [DOI] [PMC free article] [PubMed] [Google Scholar]
  69. MCBean M. S., Stephenson J. B. Treatment of classical phenylketonuria. Arch Dis Child. 1968 Feb;43(227):1–7. doi: 10.1136/adc.43.227.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
  70. Mabry C. C., Denniston J. C., Coldwell J. G. Mental retardation in children of phenylketonuric mothers. N Engl J Med. 1966 Dec 15;275(24):1331–1336. doi: 10.1056/NEJM196612152752403. [DOI] [PubMed] [Google Scholar]
  71. Mabry C. C., Denniston J. C., Coldwell J. G. Mental retardation in children of phenylketonuric mothers. N Engl J Med. 1966 Dec 15;275(24):1331–1336. doi: 10.1056/NEJM196612152752403. [DOI] [PubMed] [Google Scholar]
  72. Malamud N. Neuropathology of phenylketonuria. J Neuropathol Exp Neurol. 1966 Apr;25(2):254–268. doi: 10.1097/00005072-196604000-00006. [DOI] [PubMed] [Google Scholar]
  73. Martin P. H. Six years of newborn PKU screening. J Indiana State Med Assoc. 1968 Aug;61(8):1107–1108. [PubMed] [Google Scholar]
  74. McKean C. M., Boggs D. E. Influence of high concentrations of phenylalanine on the amino acids of cerebrospinal fluid and blood. Proc Soc Exp Biol Med. 1966 Aug-Sep;122(4):987–991. doi: 10.3181/00379727-122-31306. [DOI] [PubMed] [Google Scholar]
  75. Menkes J. H., Aeberhard E. Maternal phenylketonuria. The composition of cerebral lipids in an affected offspring. J Pediatr. 1969 Jun;74(6):924–931. doi: 10.1016/s0022-3476(69)80227-1. [DOI] [PubMed] [Google Scholar]
  76. Menkes J. H. Cerebral lipids in phenylketonuria. Pediatrics. 1966 Jun;37(6):967–978. [PubMed] [Google Scholar]
  77. Menkes J. H. Cerebral proteolipids in phenylketonuria. Neurology. 1968 Oct;18(10):1003–1008. doi: 10.1212/wnl.18.10.1003. [DOI] [PubMed] [Google Scholar]
  78. Munro H. N. Adaptation of mammalian protein metabolism to amino acid supply. Proc Nutr Soc. 1969 Sep;28(2):214–225. doi: 10.1079/pns19690042. [DOI] [PubMed] [Google Scholar]
  79. Murphy D. Termination of dietary treatment of phenylketonuria. Ir J Med Sci. 1969 Apr;8(4):177–183. doi: 10.1007/BF02954680. [DOI] [PubMed] [Google Scholar]
  80. Neely E. R., Scurletis T. D., Bouchard J. I. Experience with a metabolic screening program in North Carolina. N C Med J. 1969 Mar;30(3):77–82. [PubMed] [Google Scholar]
  81. Onisawa J., Suzuki Y., Nakamura N., Kurumada T. Phenylketonuric mother without mental retardation and her two phenylketonuric children. Paediatr Univ Tokyo. 1968 Jan;15:17–21. [PubMed] [Google Scholar]
  82. PARTINGTON M. W. Variations in intelligence in phenylktonuria. Can Med Assoc J. 1962 Apr 21;86:736–743. [PMC free article] [PubMed] [Google Scholar]
  83. POSER C. M., VAN BOGAERT L. Neuro-pathologic observations in phenylketonuria. Brain. 1959 Mar;82(1):1–9. doi: 10.1093/brain/82.1.1-a. [DOI] [PubMed] [Google Scholar]
  84. Perry T. L., Hansen S., Tischler B., Bunting R., Diamond S. Glutamine depletion in phenylketonuria.A possible cause of the mental defect. N Engl J Med. 1970 Apr 2;282(14):761–766. doi: 10.1056/NEJM197004022821401. [DOI] [PubMed] [Google Scholar]
  85. Perry T. L., Hardwick D. F., Hansen S., Love D. L., Israels S. Cystathioninuria in two healty siblings. N Engl J Med. 1968 Mar 14;278(11):590–592. doi: 10.1056/NEJM196803142781104. [DOI] [PubMed] [Google Scholar]
  86. Perry T. L., Tischler B. Phenylketonuria in a woman of normal intelligence and her child. N Engl J Med. 1966 May 5;274(18):1018–1019. doi: 10.1056/NEJM196605052741809. [DOI] [PubMed] [Google Scholar]
  87. Peterson N. A., McKean C. M. The effects of individual amino acids on the incorporation of labelled amino acids into proteins by brain homogenates. J Neurochem. 1969 Aug;16(8):1211–1217. doi: 10.1111/j.1471-4159.1969.tb05968.x. [DOI] [PubMed] [Google Scholar]
  88. Peterson R. M., Koch R., Schaeffler G. E., Wohlers A., Acosta P. B., Boyle D. Phenylketonuria. Experience at one center in the first year of screening in California. Calif Med. 1968 May;108(5):350–354. [PMC free article] [PubMed] [Google Scholar]
  89. RECHTSCHAFFEN A., SCHULSINGER F., MEDNICK S. A. SCHIZOPHRENIA AND PHYSIOLOGICAL INDICES OF DREAMING. Arch Gen Psychiatry. 1964 Jan;10:89–93. doi: 10.1001/archpsyc.1964.01720190091012. [DOI] [PubMed] [Google Scholar]
  90. Rosenblatt D., Scriver C. R. Heterogeneity in genetic control of phenylalanine metabolism in man. Nature. 1968 May 18;218(5142):677–678. doi: 10.1038/218677a0. [DOI] [PubMed] [Google Scholar]
  91. SCHIMKE R. N., MCKUSICK V. A., HUANG T., POLLACK A. D. HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS. JAMA. 1965 Aug 30;193:711–719. doi: 10.1001/jama.1965.03090090017003. [DOI] [PubMed] [Google Scholar]
  92. Salguero L. F., Itabashi H. H., Allen R. J. Neuropathologic observations in phenylketonuria. Trans Am Neurol Assoc. 1968;93:274–276. [PubMed] [Google Scholar]
  93. Scriver C. R. Phenylketonuria: the glutamine hypothesis. N Engl J Med. 1970 Apr 2;282(14):808–809. doi: 10.1056/NEJM197004022821415. [DOI] [PubMed] [Google Scholar]
  94. Sibinga M. S., Friedman C. J., Steisel I. M., Sinnamon H. M. The effect of immobilization and sensory restriction on children with phenylketonuria. Pediatr Res. 1968 Sep;2(5):371–377. doi: 10.1203/00006450-196809000-00006. [DOI] [PubMed] [Google Scholar]
  95. Siegel F. S., Balow B., Fisch R. O., Anderson V. E. School behavior profile ratings of phenylketonuric children. Am J Ment Defic. 1968 May;72(6):937–943. [PubMed] [Google Scholar]
  96. Stevenson R. E., Huntley C. C. Congenital malformations in offspring of phenylketonuric mothers. Pediatrics. 1967 Jul;40(1):33–45. [PubMed] [Google Scholar]
  97. Stewart J. M., Ashley C. G. Phenylketonuria. Report of the Oregon Detection and Evaluation Program. J Lancet. 1967 May;87(5):162–166. [PubMed] [Google Scholar]
  98. Sutherland B. S., Berry H. K., Umbarger B. Growth and nutrition in treated phenylketonuric patients. JAMA. 1970 Jan 12;211(2):270–276. [PubMed] [Google Scholar]
  99. Swaiman K. F., Hosfield W. B., Lemieux B. Elevated plasma phenylalanine concentration and lysine incorporation into ribosomal protein of developing brain. J Neurochem. 1968 Jul;15(7):687–690. doi: 10.1111/j.1471-4159.1968.tb08968.x. [DOI] [PubMed] [Google Scholar]
  100. Szeinberg A., Cohen B. E., Golan R., Peled I., Lavi U., Crispin M. Persistent mild hyperphenylalaninemia in various ethnic groups in Israel. Am J Dis Child. 1969 Oct;118(4):559–564. doi: 10.1001/archpedi.1969.02100040561003. [DOI] [PubMed] [Google Scholar]
  101. Thiriar M. J., Thiriar-de Lancker C., Vis H. L. Résultats obtenus après vingt-quatre mois de dépistage systématique de la phénylcétonurie. Acta Paediatr Belg. 1967;21(6):463–476. [PubMed] [Google Scholar]
  102. WOOLF L. I., GRIFFITHS R., MONCRIEFF A., COATES S., DILLISTONE F. The dietary treatment of phenylketonuria. Arch Dis Child. 1958 Feb;33(167):31–45. doi: 10.1136/adc.33.167.31. [DOI] [PMC free article] [PubMed] [Google Scholar]
  103. WOOLF L. I., OUNSTED C., LEE D., HUMPHREY M., CHESHIRE N. M., STEED G. R. Atypical phenylketonuria in sisters with normal offspring. Lancet. 1961 Aug 26;2(7200):464–465. doi: 10.1016/s0140-6736(61)92434-5. [DOI] [PubMed] [Google Scholar]
  104. WOOLLEY D. W., VANDERHOEVEN T. PREVENTION OF A MENTAL DEFECT OF PHENYLKETONURIA WITH SEROTONIN CONGENERS SUCH AS MELATONIN OR HYDROXYTRYPTOPHAN. Science. 1964 Jun 26;144(3626):1593–1594. doi: 10.1126/science.144.3626.1593. [DOI] [PubMed] [Google Scholar]
  105. Williams R. Maternal phenylketonuria. Med J Aust. 1968 Aug 3;2(5):216–219. [PubMed] [Google Scholar]
  106. Winick M. Malnutrition and brain development. J Pediatr. 1969 May;74(5):667–679. doi: 10.1016/s0022-3476(69)80129-0. [DOI] [PubMed] [Google Scholar]
  107. Wood A. C., Jr, Friedman C. J., Steisel I. M. Psychosocial factors in phenylketonuria. Am J Orthopsychiatry. 1967 Jul;37(4):671–679. doi: 10.1111/j.1939-0025.1967.tb00508.x. [DOI] [PubMed] [Google Scholar]
  108. Woolf L. I., Cranston W. I., Goodwin B. L. Genetics of phenylketonuria. Heterozygosity for phenylketonuria. Nature. 1967 Mar 4;213(5079):882–883. doi: 10.1038/213882a0. [DOI] [PubMed] [Google Scholar]
  109. Yu J. S., O'Halloran M. T. Children of mothers with phenylketonuria. Lancet. 1970 Jan 31;1(7640):210–212. doi: 10.1016/s0140-6736(70)90571-4. [DOI] [PubMed] [Google Scholar]
  110. Yu J. S., O'Halloran M. T. Sex ratio in phenylketonuria. Lancet. 1970 May 30;1(7657):1174–1174. doi: 10.1016/s0140-6736(70)91247-x. [DOI] [PubMed] [Google Scholar]

Articles from California Medicine are provided here courtesy of BMJ Publishing Group

RESOURCES