Phenylketonuria (PKU): Screening and Management (CBM 2000-4)

Prepared by
Karen Patrias, M.L.S., National Library of Medicine
Felix F. de la Cruz, M.D., M.P.H., National Institute of Child Health and Human Development

2000 September

U.S. DEPARTMENT OF HEALTH AND HUMAN SERVICES
Public Health Service
National Institutes of Health

National Library of Medicine
Reference Section
8600 Rockville Pike
Bethesda, Maryland 20894

Series Note

Each bibliography in the Current Bibliographies in Medicine (CBM) series covers a distinct subject area of biomedicine and is intended to fulfill a current awareness function. Citations are usually derived from searching a variety of online databases. NLM databases utilized include MEDLINE®, BIOETHICSLINE®, HEALTHSTAR^TM, LocatorPlus® , POPLINE^TM, PubMed®, and TOXLINE®. The only criterion for the inclusion of a particular published work is its relevance to the topic being presented; the format, ownership, or location of the material is not considered.

Publications in the Current Bibliographies in Medicine series are available at no cost to anyone with Internet access through the Library's World Wide Web site at http://www.nlm.nih.gov/pubs/resources.html.

Comments and suggestions on this series may be addressed to:

Karen Patrias, Editor
Current Bibliographies in Medicine
Reference Section
National Library of Medicine
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PDF Version of This CBM

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The PDF version of this CBM can be downloaded directly from http://www.nlm.nih.gov/pubs/cbm/pku.pdf.

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Sample Citations

Citations are formatted according to the rules established for Index Medicus®*. Sample journal and monograph citations appear below. For journal articles written in a foreign language, the English translation of the title is placed in brackets; for monographs, the title is given in the original language. In both cases the language of publication is shown by a three letter abbreviation appearing at the end of the citation.

Note also for journal articles that an availability statement follows many citations. This statement contains the Internet address for the citation in the NLM PubMed® retrieval system. The PubMed record includes an abstract for most articles and may also provide a link to the publisher's Internet site.

Journal Article:

Example:
DiLella AG, Woo SL. Molecular basis of phenylketonuria and its clinical applications. Mol Biol Med 1987 Aug;4(4):183-92. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=2890077&
dopt=Abstract

Order, with separating punctuation:
Authors. Article Title. Abbreviated Journal Title Date;Volume(Issue):Pages. Availability

Monograph:

Example:
Demirkol M, Shin YS, editors. Diagnosis and treatment of inborn errors of metabolism. Istanbul (Turkey): Turkish Society for PKU, Istanbul Branch; 1996. 233 p.

Order, with separating punctuation:
Authors/Editors. Title. Edition. Place of Publication: Publisher; Date. Total No. of Pages.

* For details of the formats used for references, see the following publication:
Patrias, Karen. National Library of Medicine recommended formats for bibliographic citation. Bethesda (MD): The Library; 1991 Apr. Available from: NTIS, Springfield, VA; PB91-182030.

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Introduction

Phenylketonuria (PKU): Screening and Management

Phenylketonuria or PKU is a rare, inherited metabolic disorder that, if untreated, causes mental retardation. Approximately one of every 10,000 infants in the United States is born with PKU, which usually results from a deficiency of a liver enzyme known as phenylalanine hydroxylase (PAH). This enzyme deficiency leads to elevated levels of the amino acid phenylalanine in the bloodstream.

All infants in this country undergo blood testing for PKU. The current treatment for this disorder involves dietary modification. When a very strict diet is begun early and maintained, children with PKU can expect normal development and a normal lifespan. The diet generally excludes all high protein foods, such as meat, milk, eggs, and nuts, since all protein contains phenylalanine. Dietary noncompliance can result in a decline in mental and behavioral performance. Women with PKU must also maintain a strictly controlled diet before and during pregnancy to prevent fetal damage. Scientists are actively exploring nondietary treatments for PKU.

This bibliography was prepared in support of the National Institutes of Health (NIH) Consensus Development Conference titled Phenylketonuria (PKU): Screening and Management held in Bethesda, MD on October 16?18, 2000. It includes citations to journal articles, books and book chapters, conference proceedings and conference papers, and dissertations in all languages published primarily from January 1980 through July 2000. Works of historical significance and other selected references from earlier years have also been included. Citations have been arranged by subject and then alphabetically by author within each subject. A citation may appear under more than one subject. For example, a citation discussing the economic aspects of screening for PKU would be found under both "Economics and Socioeconomics" and "Screening and Diagnosis."

The compilers wish to thank Ms. Twann Dailey of the National Library of Medicine for her assistance in the production of this bibliography.

This publication is not copyrighted and may be freely reproduced. However any reproductions of this bibliography, in whole or in part, must include all credits. If you wish to cite this bibliography, the correct format is:

Patrias, Karen; de la Cruz, Felix F., compilers. Phenylketonuria (PKU): screening and management [bibliography online]. Bethesda (MD): National Library of Medicine (US); 2000 Sep [insert cited year month day in brackets]. [insert no. of screens or lines in brackets]. (Current bibliographies in medicine; no. 2000-4). 3394 citations from January 1980 through July 2000, plus selected earlier citations. Available from: http://www.nlm.nih.gov/pubs/resources.html

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History and Classic Material

Acuff KL, Faden RR. A history of prenatal and newborn screening programs: lessons for the future. In: Faden R, Geller G, Powers M, editors. AIDS, women and the next generation. New York: Oxford University Press; 1991. p. 59-93.

Ambrus CM, Ambrus JL, Horvath C, Pedersen H, Sharma S, Kant C, Mirand E, Guthrie R, Paul T. Phenylalanine depletion for the management of phenylketonuria: use of enzyme reactors with immobilized enzymes. Science 1978 Sep 1;201(4358):837-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=567372&dopt=Abstract

Bartholome K, Lutz P. [Determination of phenylalanine hydroxylase in patients with phenylketonuria and hyperphenylalaninemia]. Monatsschr Kinderheilkd 1976 May;124(5):421-2. (Ger). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=934137&dopt=Abstract

Bessman SP. Historical perspective: tyrosine and maternal phenylketonuria, welcome news [editorial]. Am J Clin Nutr 1998 Mar;67(3):357-8. Comment on: Am J Clin Nutr 1998 Mar;67(3):473-6. Comment in: Am J Clin Nutr 1998 Mar;67(3):488; Am J Clin Nutr 1998 Dec;68(6):1304-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9497176&dopt=Abstract

Bickel H. Dietary restriction in inborn errors of amino acid metabolism. Curr Concepts Nutr 1979;8:35-53. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=527358&dopt=Abstract

Bickel H. [Early diagnosis of phenylketonuria]. Monatsschr Kinderheilkd 1966 Jan;114(1):23-5. (Ger). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7213484&dopt=Abstract

Bickel H. The first treatment of phenylketonuria. Eur J Pediatr 1996 Jul;155 Suppl 1:S2-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8828598&dopt=Abstract

Bickel H. Phenylalaninaemia or classical phenylketonuria (PKU)? Neuropadiatrie 1970 Apr;1(4):379-82. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=5538079&dopt=Abstract

Bickel H. [Phenylketonuria. Yesterday, today and tomorrow]. Arch Fr Pediatr 1983;40 Suppl 1:207-13. (Fre). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=6349571&dopt=Abstract

Bickel H. Recent advances in the early detection and treatment of inborn errors with brain damage. Neuropadiatrie 1969 Jun-Jul;1(1):1-11. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=4942066&dopt=Abstract

Bickel H, Bremer HJ. [On phenylketonuria. Carrying out of phenylalanine-low diet]. Dtsch Med Wochenschr 1967 Apr 14;92(15):700-10. (Ger). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=5337203&dopt=Abstract

Bickel H, Gerrard J, Hickmans EM. Influence of phenylalanine intake on phenylketonuria. Lancet 1953 Oct 17;2:812-3.

Bickel H, Ruter E, Nutzenadel W. [Early detection of hereditary enzyme defects of amino acid metabolism by means of microbiological inhibitor tests and thin layer chromatography]. Z Klin Chem Klin Biochem 1969 Mar;7(2):203-4. (Ger). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=4982481&dopt=Abstract

Bush JW, Chen MM, Patrick DL. Health status index in cost effectiveness: analysis of PKU program. In: Berg RL, editor. Health status indexes. Proceedings of the Conference on a Health Status Index; 1972 Oct 1-4; Tucson, AZ. Chicago: Hospital Research and Educational Trust; 1973. p. 172-209.

Centerwall SA, Centerwall WR. The discovery of phenylketonuria: the story of a young couple, two retarded children, and a scientist. Pediatrics 2000 Jan;105(1 Pt 1):89-103. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10617710&dopt=Abstract

Eggers C, Bickel H. [Pre-, peri- and postnatal causes of mental retardation]. Ergeb Inn Med Kinderheilkd 1974;34(0):155-205. (Ger). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=4278418&dopt=Abstract

Eisensmith RC, Goltsov AA, O'Neill C, Tyfield LA, Schwartz EI, Kuzmin AI, Baranovskaya SS, Tsukerman GL, Treacy E, Scriver CR, et al. Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans. Am J Hum Genet 1995 Jan;56(1):278-86. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7825588&dopt=Abstract

Elgjo RF. Asbjorn Folling, his life and work. Prog Clin Biol Res 1985;177:79-92. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=3892544&dopt=Abstract

Folling A. [Phenylketonuria]. Tidsskr Nor Laegeforen 1967 Mar 1;87(5 Suppl):451-4. (Nor). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=6046758&dopt=Abstract

Folling A. Uber Ausscheidung von Phenylbrenztraubensaure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillitat. Hoppe Seylers Z Physiol Chem 1934;277:169-79. (Ger).

Folling I. The discovery of phenylketonuria. Acta Paediatr Suppl 1994 Dec;407:4-10. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7766954&dopt=Abstract

Gerrard JW. Phenylketonuria revisited. Clin Invest Med 1994 Oct;17(5):510-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7867255&dopt=Abstract

Guthrie R. Blood screening for phenylketonuria [letter]. JAMA 1961 Nov 25;178(8):863.

Guthrie R. The introduction of newborn screening for phenylketonuria. A personal history. Eur J Pediatr 1996 Jul;155 Suppl 1:S4-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8828599&dopt=Abstract

Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963 Sep;32(3):338-43.

Guttler F. [Folling's disease: 50 years and still a catalyst of new discoveries in clinical medicine]. Nord Med 1984;99(3):78-81. (Dan). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=6374615&dopt=Abstract

Guttler F. Phenylketonuria: 50 years since Folling's discovery and still expanding our clinical and biochemical knowledge. Acta Paediatr Scand 1984 Nov;73(6):705-16. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=6395623&dopt=Abstract

Jervis GA. Studies on phenylpyruvic oligophrenia: the position of the metabolic error. J Biol Chem 1947 Aug;169(3):651-6.

Kaufman S. Experiencing classical enzymology in its prime. Protein Sci 1996 Aug;5(8):1742-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8844862&dopt=Abstract

Kaufman S. The phenylalanine hydroxylating system from mammalian liver. Adv Enzymol 1971;35:245-319.

Koch J. Robert Guthrie--the PKU story: a crusade against mental retardation. Pasadena (CA): Hope Pub. House; c1997. 190 p.

Koch R, de la Cruz F. Historical aspects and overview of research on phenylketonuria. Ment Retard Dev Disabil Res Rev 1999;5(2):101-3.

Koch R, Williamson ML, Donnell GN, Guthrie R, Straus R, Coffelt W, Fish CH. A cooperative study of two methods for phenylalanine determination: McCaman-Robins fluorimetric and microbiologic inhibition methods. J Pediatr 1966 Jun;68(6):905-11. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=5935077&dopt=Abstract

Ledley FD. Somatic gene therapy for human disease: a problem of eugenics? Trends Genet 1987 Apr;3(4):112-5.

Lie SO. [Asbjorn Folling's disease. Reflections on a 50-year anniversary]. Tidsskr Nor Laegeforen 1984 Dec 10;104(34):2381-5. (Nor). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=6395439&dopt=Abstract

McDonald JD. The PKU mouse project: its history, potential and implications. Acta Paediatr Suppl 1994 Dec;407:122-3. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7766947&dopt=Abstract

Murphey WH, Patchen L, Guthrie R. Screening tests for argininosuccinic aciduria, orotic aciduria, and other inherited enzyme deficiencies using dried blood specimens. Biochem Genet 1972 Feb;6(1):51-9. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=4199795&dopt=Abstract

Nutrition classics, the Journal of Clinical Investigation, volume 34, 1955. Studies on phenylketonuria. I. Restricted phenylalanine intake in phenylketonuria. By Marvin D. Armstrong and Frank H. Tyler. Nutr Rev 1983 Jan;41(1):15-8. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=6341892&dopt=Abstract

Paul D. A double-edged sword. Nature 2000 Jun 1;405(6786):515. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10850693&dopt=Abstract

Phenylketonuria in adolescence. International Symposium on the Advances in the Management of PKU. Brussels, Belgium, October 1986. Dedicated to Horst Bickel. Eur J Pediatr 1987;146 Suppl 1:A1-43. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=3319634&dopt=Abstract

Schmidt H, Bickel H. [Phenylketonuria]. Internist (Berl) 1976 Jul;17(7):354-61. (Ger). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=6237158&dopt=Abstract

Schroeder SR. The PKU story - Guthrie,R. Am J Ment Retard 1999;104:392-3.

Scriver CC. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants, by Robert Guthrie and Ada Susi, Pediatrics, 1963;32:318-343. Pediatrics 1998 Jul;102(1 Pt 2):236-7. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9651440&dopt=Abstract

Scriver CR. Whatever happened to PKU? Clin Biochem 1995 Apr;28(2):137-44. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7628072&dopt=Abstract

Smith I, Lobascher ME, Stevenson JE, Wolff OH, Schmidt H, Grubel-Kaiser S, Bickel H. Effect of stopping low-phenylalanine diet on intellectual progress of children with phenylketonuria. Br Med J 1978 Sep 9;2(6139):723-6. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=698696&dopt=Abstract

Udenfriend S, Cooper JR. The enzymatic conversion of phenylalanine to tyrosine. J Biol Chem 1952 Feb;194(2):503-11.

Zschocke J, Mallory JP, Eiken HG, Nevin NC. Phenylketonuria and the peoples of Northern Ireland. Hum Genet 1997 Aug;100(2):189-94. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9254847&dopt=Abstract

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Overviews and Reviews

Abadie V, Depondt E, Farriaux JP, Lepercq J, Lyonnet S, Maurin N, Ogier de Baulny H, Vidailhet M. [Pregnancy and the child of a mother with phenylketonuria]. Arch Pediatr 1996 May;3(5):489-6. (Fre). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8763723&dopt=Abstract

Acosta PB, Yannicelli S. Nutrition support of inherited disorders of amino acid metabolism: part 2. Top Clin Nutr 1995 Mar;10(2):48-72.

Addison GM, et al., editors. Practical developments in inherited metabolic disease: DNA analysis, phenylketonuria, and screening for congenital adrenal hyperplasia. Proceedings of the 23rd Annual Symposium of the Society for the Study of Inborn Errors of Metabolism; 1985 Sep; Liverpool, England. Boston: MTP Press; c1986. 335 p.

Allen RJ, Brunberg J, Schwartz E, Schaefer AM, Jackson G. MRI characterization of cerebral dysgenesis in maternal PKU. Acta Paediatr Suppl 1994 Dec;407:83-5. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7766967&dopt=Abstract

Alvarez Dominguez L, Campistol Plana J, Ribes Rubio A, Riverola de Vecina AT. [Phenylalanine metabolites in hyperphenylalaninemic children]. An Esp Pediatr 1992 May;36(5):371-4. (Spa). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1616197&dopt=Abstract

Ambulatory nutrition care: infants. J Am Diet Assoc 1989 Apr;89(4 Suppl):S15-6.

Ambulatory nutrition care: pregnant women. J Am Diet Assoc 1989 Apr;89(4 Suppl):S10-4.

Annenkov GA. [Genetical heterogeneity of phenylketonuria]. Vopr Med Khim 1982 May-Jun;28(3):62-70. (Rus). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7048735&dopt=Abstract

Antel JP, Arnason BG. Genetic predisposition to environmental factors. Res Publ Assoc Res Nerv Ment Dis 1983;60:255-71. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=6401865&dopt=Abstract

Aoki K. [Disorders of amino acids]. Nippon Rinsho 1993 Jan;51 Suppl:332-9. (Jpn). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8459561&dopt=Abstract

Armarego WL, Randles D, Waring P. Dihydropteridine reductase (DHPR), its cofactors, and its mode of action. Med Res Rev 1984 Jul-Sep;4(3):267-321. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=6379341&dopt=Abstract

Bailey SW, Boerth SR, Dillard SB, Ayling JE. The mechanism of cofactor regeneration during phenylalanine hydroxylation. Adv Exp Med Biol 1993;338:47-54. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8304161&dopt=Abstract

Ball SP, Kenwrick SJ, Davies KE. The molecular genetics of human monogenic diseases. Biotechnol Genet Eng Rev 1985;3:275-309. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=3004535&dopt=Abstract

Bamforth FJ. Laboratory screening for genetic disorders and birth defects. Clin Biochem 1994 Oct;27(5):333-42. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7867213&dopt=Abstract

Baranov VS. [Successes and prospects of molecular diagnosis of the most widespread inherited diseases]. Tsitol Genet 1992 Jul-Aug;26(4):64-72. (Rus). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1440921&dopt=Abstract

Barker HA. Amino acid degradation by anaerobic bacteria. Annu Rev Biochem 1981;50:23-40. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=6791576&dopt=Abstract

Batshaw ML. PKU and other inborn errors of metabolism. In: Batshaw ML, et al., editors. Children with disabilities. 4th ed. Baltimore (MD): Paul H. Brookes Publishing Co.; 1997. p. 389-404.

Baumeister AA, Baumeister AA. Dietary treatment of destructive behavior associated with hyperphenylalaninemia. Clin Neuropharmacol 1998 Jan-Feb;21(1):18-27. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9579281&dopt=Abstract

Bequette BJ, Backwell FR, Crompton LA. Current concepts of amino acid and protein metabolism in the mammary gland of the lactating ruminant. J Dairy Sci 1998 Sep;81(9):2540-59. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9785247&dopt=Abstract

Bessman SP. The justification theory: the essential nature of the non-essential amino acids. Nutr Rev 1979 Jul;37(7):209-20. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=384302&dopt=Abstract

Bessman SP. Phenylketonuria--a genetic intrauterine nutritional deficiency. Nutr MD 1992 Jan;18(1):5.

Bick U, Ullrich K, Stober U, Moller H, Schuierer G, Ludolph AC, Oberwittler C, Weglage J, Wendel U. White matter abnormalities in patients with treated hyperphenylalaninaemia: magnetic resonance relaxometry and proton spectroscopy findings. Eur J Pediatr 1993 Dec;152(12):1012-20. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8131802&dopt=Abstract

Bickel H, Wachtel U, editors. Inherited diseases of amino acid metabolism: recent progress in the understanding, recognition, and management. New York: Thieme; 1985. 399 p. Based on the international symposium in Heidelberg in 1984.

Blau N, Niederwieser A. GTP-cyclohydrolases: a review. J Clin Chem Clin Biochem 1985 Apr;23(4):169-76. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=3891906&dopt=Abstract

Blau N, Thony B, Spada M, Ponzone A. Tetrahydrobiopterin and inherited hyperphenylalaninemias. Turk J Pediatr 1996 Jan-Mar;38(1):19-35. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8819618&dopt=Abstract

Bodamer OA, Leonard JV, Tasker RC, Hoffmann GF, Halliday D. Protein turnover in critically ill children. Eur J Pediatr 1997 Aug;156 Suppl 1:S59-61. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9266217&dopt=Abstract

Boyce RA. The dietetic implications of maternal phenylketonuria. Aust J Nutr Diet 1991 Sep;48(3):82-8.

Brenton DP. Cardiac defects in the children of mothers with high concentrations of plasma phenylalanine. Br Heart J 1990 Mar;63(3):143-4. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=2183857&dopt=Abstract

Campistol Plana J, Alvarez Dominguez L, Riverola de Veciana AT, Castillo Rivera P, Giner Soria P. [Hyperphenylanalinemia and phenylketonuria. The importance of early diagnosis and follow up at a health center]. An Esp Pediatr 1991 Jan;34(1):51-6. (Spa). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=2018258&dopt=Abstract

Chestkov VV, Shishkin SS. [Genetic heterogeneity and approaches to the prenatal diagnosis of phenylketonuria (review)]. Vopr Med Khim 1986 Jul-Aug;32(4):7-12. (Rus). Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=3020793&dopt=Abstract

Childs B. Genetic screening. Annu Rev Genet 1975;9:67-89. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=129030&dopt=Abstract

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