References

Websites:

https://HCUnetworkAmerica.org/

https://www.britannica.com/science/homocystinuria

https://www.webmd.com/children/what-is-homocystinuria#1

https://rarediseases.info.nih.gov/diseases/10770/homocystinuria

https://www.healthline.com/health/homocystinuria#causes

References

1. Perry TL. Homocystinuria. In: Nyan WL,ed. Heritable disorders of amino acid metabolism. New York: John Wiley & Sons, Inc, 1974: 395-428.

2. Carson NAJ, Neill DW. Metabolic abnormalities detected in a survey of mental backward individuals in Northern Ireland. Arch Dis Child 1962; 37: 505-13.

3. Gerritsen T, Vaughn JG, Waisman HA. The identification of homocystine in the urine. Biochem Biophys Res Commun 1962; 9: 493-6.

4. Mudd SH, Finkelstein JD, Irreverre F, Laster L. Homocystinuria: an enzymatic defect. Science 1964; 143: 1443-5.

5. Andria G, Sebastio G. Homocystinuria due to cystathionine b-synthase deficiency and related disorders. In: Fernandes J, Saudubray JM, van den Berghe G (eds): Inborn metabolic diseases – diagnosis and treatment, (2nd. Edn.) 1996, Springer-Verlag Berlin Heidelberg New York. Chap 15, pp 177-182.

6. Butz LW, du Vigneaud V (1932) The formation of a homologue of cystine by the decompensation of methionine with sulphuric acid. J Biol Chem 99: 135-42.

7. Mudd SH, Levy HL (1995) Plasma homocyst(e)ine or homocystine? (Letter) New Eng J Med 333: 325.

8. Mudd SH, Finkelstein JD, Refsum H et al (2000) Homocysteine and its disulphide derivatives. A suggested consensus terminology. Arterioscler Thromb Vasc Biol 20: 1704-6.

9. Mudd SH, Levy HL, Skovby F. Disorders of transsulfuration. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th. edn. New York: McGraw-Hill, 1279-327.

10. Naughten E, Yap S, Mayne PD. Newborn screening for homocystinuria: Irish and worldwide experience. Eur j Pediatr 1998; 157(suppl 2): S84-7.

11. Carson NAJ, Dent CE, Field CMB, Gaull GE. Homocystinuria: Clinical and pathological review of ten cases. J Pediatr 1965; 66: 565-83.

12. Chase HP, Goodman SI, O’Brien D. Treatment of Homocystinuria. Arch Dis Child 1967; 42: 514-20.

13. Spaeth GL, Barber GW. Prevelance of Homocystinuria among the mentally retarded: evaluation of a specific screening test. Pediatrics 1967; 40: 586-9.

14. Schimke RN, McKusick VA, Huang TH, Polack AD. Homocystinuria. A study of 20 families with 38 affected members. JAMA 1965; 193: 711-9.

15. Tada K, Tateda H, Arashima S, Sakai K, Kitagawa T, Aoki K, Suwa S, Kawamura M, Oura T, Takesada M, Kuroda Y, Yamashitas F, Matsuda I, Naruse H. Follow-up study of a nation-wide neonatal metabolic screening program in Japan. Eur J Pediatr 1984; 142 : 204-7.

16. Whiteman PD, Clayton BE, Ersser RS, Lilly P, Seakins JWT. Changing incidence of neonatal hypermethioninaemia: Implications for the detection of homocystinuria. Arch Dis Child 1979; 54: 593-8.

17. Doherty LB, Rohr FJ, Levy HL. Detection of phenylketonuria in the very early newborn blood specimen. Pediatrics 1991; 87: 240-4.

18. Levy HL, Simmons J. Neonatal screening for homocystinuria and other hypermethioninaemias. 9th. National Neonatal Screening Symposium, April 7-11, Raleigh, North Carolina, 1992; p46 (abstract).

19. Wilcken B, Turner G. Homocystinuria in New South Wales. Arch Dis Child 1978; 53: 242-5.

20. Mudd SH, Skovby F, Levy HL, Pettigrew KD, Wilcken B, Pyeritz RE, Andria G, Boers GHJ, Bromberg IL, Cerone R, Fowler B, Grobe H, Schmidt H, Schweitzer L. The natural history of homocystinuria due to cystathionine b-synthase deficiency. Am J Hum Genet 1985; 37: 1-31.

21. McKusick VA. Homocystinuria. In : McKusick VA ed. Heritable disorders of connective tissue. St. Louis: CV Mosby Co, ed. 4, 1972: 224-81.

22. Johnston SS. Homocystinuria. Ophthaimologica 1978; 176: 282-3.

23. Gaustadnes M, Ingersler J, Rutiger N. Prevalence of congenital homocystinuria in Denmark. N Engl J Med 1999; 340(19): 1513.

24. Linnebank M, Homberger A, Junker R, Nowak-Goettl U, Harnis E, Koch HG. High prevalence of I278T mutation of the human cystathionine b-synthase detected by a novel screening application. Thromb Haemost 2001; 85(6): 986-8.

25. McKusick VA, Hall JG, Char F. The clinical and genetic characteristics of homocystinuria. In: Carson NAJ, Raine DN, eds. Inherited disorders of sulphur metabolism. London: Churchill Livingston Ltd., 1971: 179-203.

26. Drayer JIM, Cleophas AJM, Trijbels JMF, Smals AGH, Kloppenborg PWC. Symptoms, diagnostic pitfalls, and treatment of homocystinuria in seven adult patients. Neth J Med 1980; 23: 89-94.

27. Spaeth GL, Barber GW. Homocystinuria in a mentally retarded child and her normal cousins. Trans Am Ophthalmol Oto-laryngol 1965; 69: 912-30.

28. Boers GHJ, Polder TW, Cruysberg JRM, Schoonderwaldt HC, Peetoom JJ, van Ruyven TWJ, Smals AGH, Kloppenborg PWC. Homocystinuria versus Marfan’s syndrome: the therapuetic relevance of the differential diagnosis. Neth J Med 1984; 27: 206-12.

29. Andria G, Sebastio G. Homocystinuria due to cystathionine b-synthase deficiency and related disorders. In: Fernandes J, Saudubray JM, van den Berghe G (eds): Inborn metabolic diseases – diagnosis and treatment, (2nd. Edn.) 1996, Springer-Verlag Berlin Heidelberg New York. Chap 15, pp 177-182.

30. Carson NAJ. Homocystinuria: clinical and biochemical heterogeneity. In: Cockburn F, Gitzelmann R, eds. Inborn errors of metabolism in humans. Lancaster, England: MTP Press Limited, 1982: 53-67.

31. Cross HE, Jensen AD. Ocular manifestations in the Marfan syndrome and homocystinuria. Am J Ophthalmol 1973; 75: 405-20.

32. Cruysberg JRM, Pinckers A, Deutman AF. Ocular manifestation and risk factors of classical homocystinuria. In Press.

33. Ramsey MS, Yanoff M, Fine BS. The ocular histopathology of homocystinuria. A light and electron microscopic study. Am J Ophthalmol 1972; 74: 377-85.

34. Ramsey MS, Daitz LD, Beaton JW. Lens fringe in homocystinuria. Arch Ophthamol 1975; 93: 318.

35. Cruysberg JRM, Boers GHJ, Trijbels JMF, Deutman AF. Delay in diagnosis of homocystinuria: retrospective study of consecutive patients. BMJ 1996; 313:1037-40.

36. Mohindra I, Held R. Refractions from humans from birth to five years. Doc Ophthalmol Proc Ser 1981; 28: 17-29.

37. Smith SW. Roentgen findings in homocystinuria. Am J Roentgenol Radium Ther Nucl Med 1967; 100: 147-54.

38. Brenton DP, Dow CJ, James JP, Hay RL, Wynne-Davies R. Homocystinuria and Marfan’s syndrome. A comparison. J Bone Joint Surg Br1972; 54: 277-98.

39. Mudd SH, Levy HL. Disorders of transsulphuration. In Stanbury JB, Wyngaarden JB and Fredrickson DS (eds) The Metabolic Basis of Inherited Disease. 4th Edn., pp. 458-503. (New York: McGraw Hill)

40. Boers GHJ, Smals AGH, Drayer JIM, Trijbels FJM, Leermakers AI, Kloppenborg PWC. Pyridoxine treatment does not prevent homocystinemia after methionine loading in adult homocystinuria patients. Metabolism 1983; 32: 390-7.

41. Schedewie H, Willich E, Grobe H, Schmidt H, Muller KM. Skeletal findings in homocystinuria : a collaborative study. Pediatr Radiol 1973; 1: 12-23.

42. Morreels CL, Fletcher BD, Weilbaecher RG, Dorst JP. The roentgenographic features of homocystinuria. Radiology 1968; 90: 1150-8.

43. Beals RK. Homocystinuria. A report of two cases and review of the literature.
J Bone Joint Surg Am 1969; 51: 1564-72.

44. Grobe H, v. Bassewitz DB. Thromboembolische Komplikationen und Thrombozytenanomalien bei homocystinurie. Z. Kinderheilk 1972; 112: 309-20.

45. Brill PW, Mitty HA, Gaull GE. Homocystinuria due to cystathionine synthase deficiency: clinical-roentgenologic correlations. Am J Roengenol Radium Ther Nucl Med 1974; 121: 45-54.

46. Brenton DP. Skeletal abnormalities in homocystinuria. Post Grad Med J 1977; 53: 488-96.

47. Hopkins I, Townley RRW, Shipman RT. Cerebral thrombosis in a patient with homocystinuria. J Pediatr 1969; 75: 1082-83.

48. Carson NAJ, Cusworth DC, Dent CE, Field CMB, Niell DW, Westall RG. Homocystinuria: A new inborn error of metabolism associated with mental deficiency. Arch Dis Child 1963; 38: 425-36.

49. Dunn HG, Perry TL, Dolman CL. Homocystinuria. A recently discovered cause of mental defect and cerebrovascular thrombosis. Nuerology 1966; 16: 407-20.

50. Cusworth DC, Dent CE. Homocystinuria. Br Med Bull 1969; 25: 42-7.

51. Carey MC, Donovan DE, FitzGerald O, McAuley FD.  Homocystinuria I.
A clinical and pathological study of nine subjects in six families. Am J Med 1968; 45: 7-25.

52. Cochran FB, Packman S. Homocystinuria presenting as saggital sinus thrombosis. Eur Neurol 1992; 32: 1-3.

53. Rubba P, Faccenda F, Pauciullo P, Carbone L, Mancini M, Strisciuglio P, Carrozzo R, Sartorio R, del Guidice E, Andria G. Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine b-synthase deficiency. Metabolism 1990; 39: 1191-5.

54. Regenbogen L, Ilie S, Elian I. Homocystinuria, a surgical and anaesthetic risk. Metab Pediatr Ophthalmol 1980; 4: 209-11.

55. Jackson GM, Grisolia JS, Wolf PL, Jones OW, Bloor CM. Postoperative thromboemboli in cystathionine  b-synthase deficiency. Am Heart J 1984; 108: 627-8.

56. Gaull GE, Sturman JA, Schaffner F. Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies. J Pediatr 1974; 84: 381-90.

57. Abbott MH, Folstein SE, Abbey H, Pyeritz RE. Psychiatric manifestations of homocystinuria due to cystathionine  b-synthase deficiency. Am J Med Genet 1987; 26: 959-69.

58. Yap S, Naughten ER, Wilcken B, Wilcken DEL, Boers GH. Vascular complications of severe hyperhomocysteinaemia in patients with homocystinuria due to cystathionine b-synthase deficiency: effects of homocysteine-lowering therapy. Semin Thromb Hemost 2000; 26: 335-340.

59. Yap S. Early detection and commencement of dietary treatment alters the morbid natural history of patients with severe hyperhomocysteinaemia due to cystathionine b-synthase deficiency. Doctor of Medicine Thesis, Royal College of Surgeons in Ireland/National University of Ireland 2000; Chapter 3: 17.

60. Yap S, Naughten E. Homocystinuria due to cystathionine b-synthase deficiency in Ireland: 25 years experience of a newborn screened and treated population with reference to clinical outcome and biochemical control. J Inher Metab Dis 1998; 21: 738-47.

61. Barber GW, Spaeth GL. Pyridoxine therapy in homocystinuria. Lancet 1967; 1; 337.

62. Gaull GE, Rassin DK, Struman JA. Pyridoxine-dependency in homocystinuria. Lancet 1968; 2; 1302.

63. Wilcken DEL, Wilcken B. The natural history of vascular disease in homocystinuria and the effects of treatment. J Inher Metab Dis 1999; 20: 295-300.

64. Byrd VJ, Heinbokel H, Schweitaer S, Brodehl J. Evaluation of oral L-cysteine for treatment of cystine deficiency in homocystinuria. In: Abstracts of the Third international Symposium on inborn errors of metabolism in humans. Munich: Karger,1984: 194.

65. Morrow G III, Barnes LA. Combined vitamin responsiveness in homocystinuria.
J Pediatr 1972; 81: 946-54.

66. Wilcken B, Turner B. Homocystinuria: Reduced folate levels during pyridoxine treatment. Arch Dis Child 1973; 48: 58-62.

67. Yap S, Boers GHJ, Wilcken B, Wilcken DEL, Brenton DP, Lee PJ, Walter JH, Howard PM, Naughten ER. Vascular outcome in patients with homocystinuria due to cystathionine b-synthase deficiency treated chronically: A multicenter observational study. Arterioscler Thromb Vasc Biol 2001; 21: 2080-5.

68. Mudd SH, Edwards WA, Loeb PM, Brown MS, Laster I. Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine. J Clin Invest 1970; 49: 1762-73.

69. Wilcken DEL, Dudman NPB, Tyrrell PA. Homocystinuria due to cystathionine b-synthase deficiency – the effects of betaine treatment in pyridoxine-responsive patients. Metabolism 1985; 34; 1115-21.

70. Komrower GM, Lambert AM, Cusworth DC, Westfall RG. Dietary treatment of homocystinuria. Arch Dis Child 1966; 41: 666-71.

71. Perry TL, Dunn HG, Hansen S, MacDougall L, Warrington PD. Early diagnosis and treatment of homocystinuria. Pediatrics 1966; 37: 502-5.

72. Komrower GM, Sardharwalla IB. The dietary treatment of homocystinuria. In: Carson NAJ, RAIne DN, eds. Inherited disorders of sulphur metabolism. Edinburgh: Churdhill-Livingston 1971:254-63.

73. Perry TL, Hansen S, Love DL, Crawford LE, Tischler B. Treatment of homocystinuria with a low-methionine diet, supplemental cystine, and a methyl donor. Lancet 1968; 2: 474-8.

74. Carson NAJ. Homocystinuria: Treatment of a 5-year old severely retarded child with a natural diet low in methionine. Am J Dis Child 1967; 113: 95-7.

75. Van Sprang FJ, Wadman SK. Trial treatment of homocystinuria, in Inherited Disorders of Sulphur Metabolism, edited by Carson NAJ and Raine DN, p 275. Churchill Livingston, Edinburgh, 1971.

76. Perry TL, Hansen S, Love DL, Crawford LE, Tishler B. Treatment of homocystinuria with a low methionine diet, supplemental cystine, and a methyl donor. Lancet 1968; 2: 474-8.

77. Brenton DP, Cusworth DC, Dent CE, Jones EE. Homocystinuria. Proc R Soc Med 1963; 56: 996-7.

78. Parkinson MS, Harper JR. Therapuetic problems of adolescent homocystinuria. Proc R Soc Med 1969; 62: 909-10.

79. Smolin LA, Benevenga NJ. The use of cyst(e)ine in the removal of protein-bound homocysteine. Am J Clin Nutr 1984; 39: 730-7.

80. Berlow S, Bachman RP, Berry GT, Donnell GN, Grix A, Levitsky LL, Hoganson G, Levy HL. Betaine therapy in homocystinuria. Brain Dysfunction 1989; 2: 10.

81. Wiley VC, Dudman NPB, Wilcken DEL. Interrelations between plasma free and protein-bound homocysteine and cysteine in homocystinuria. Metabolism 1988; Vol 37, No 2: pp 191-5.

82. Wiley VC, Dudman NPB, Wilcken DEL. Free and protein-bound homocysteine and cysteine in cystathionine  b-synthase deficiency; Interrelations during short- and long-term changes in plasma concentrations. Metabolism 1989; 38: 734-9.

83. Wilcken DEL, Wilcken B, Dudman NPB, Tyrrell PA. Homocystinuria – The effects of betaine in the treatment of patients not responsive to pyridoxine. NEJM 1983; 309; 448-53.

84. Wall RT, Harlan JM, Harker LA, Striker GE. Homocysteine-induced endothelial cell injury in vitro: a model for the study of  vascular injury. Thromb Res 1980; 18: 113-21.

85. Harker LA, Ross R. Prevention of homocysteine induced arteriosclerosis: sulphinpyrazone endothelial protection. In: Abe T, Sherry S, eds. A new approach to reduction of cardiac death. Bern-Stuttgart-Vienna: Hans Huber Publishers,1979;59-72.

86. Harker LA, Scott CR. Platelets in homocystinuria.  (letter) NEJM 1977; 296; 818.

87. Harker LA, Ross R. Sulphydryl-mediated vascular disease. Eur J Clin Invest 1978; 8: 199.

88. Schulman JD, Agarwal B, Mudd SH, Shulman NR. Pulmonary embolism in a homocystinuric patient during treatment with dipyridamole and acetylsalicylic acid. NEJM 1978; 299; 661.

89. Schulman JD, Mudd SH, Shulman NR, Landvater L. Pregnancy and thrombophlebitis in homocystinuria. Blood 1980; 56; 326.

90. Schoonderwaldt HC, Boers GHJ, Cruysberg JKM, Schulte BPM, Slooff JL, Thijssen HOM. Neurologic manifestations of homocystinuria. Clin Neurol Neurosurg 1981; 83; 153-62.

91. Grobe H. Homocystinuria and oral contraceptives. Lancet 1978; 1: 158-9.

92. McCully KS. Homocystine, atherosclerosis and thrombosis: implications for oral contraceptives users. Am J Clin Nutr 1975; 28: 542-9.

93. Steegers-Theunissen RPM, Boers GHJ, Steegers EA, Trijbels FJM, Thomas CMG, Eskes TKAB. Effects of sub-50 oral contraceptives on homocysteine metabolism: A preliminary study. Contraception 1992; 45; 129-39.

94. Perry TL, Hansen S, MacDougall L. Urinary screening tests in the prevention of mental deficiency. Can MAJ 1966; 95: 89-95.

95. Brand E, Harris MM, Biloon S, Cystinuria. The excretion of cystine complex which decomposes in the urine with the liberation of free cystine. J Biol Chem 1930; 86: 315-31.

96. Levy HL, Mudd SH, Uhlendorf BW, Madigan PM. Cystathioninuria and homocystinuria. Clin Chem Acta 1975; 58: 51-9.

97. Levy HL, Mudd SH. Homocystinuria due to bacterial contamination in pyridoxine-unresponsive cystathioninemia. Pediatr Res 1973; 7: 390 (abstract).

98. Spaeth GL, Barber GW. Homocystinuria in a mentally retarded child and her normal cousin. Trans Acad Ophthalmol Oto-laryngol 1965; 69: 912-30.

99. Drayer JIM, Cleophas AJM, Trijbels JMF, Smals AGH, Kloppenborg PWC. Symptoms, diagnostic pitfalls, and treatment of homocystinuria in seven adult patients. Neth J Med 1980; 23: 89-94.

100. Spaeth GL. Screening for homocystinuria. Surv Ophthalmol 1984; 29: 230.

101. Perry TL, Hansen S, MacDougall L, Warrington PD. Sulphur-containing amino acids in the plasma and urine of homocystinurics. Clin Chem Acta 1967; 15: 409-20.

102. Brattstrom L, Lindgren A, Israelsson B, Andersson A, Hultberg B. Homocysteine and cysteine: determinants of plasma levels in middle-aged and elderly subjects. J intern Med 1994; 236: 633-41.

103. Perry TL, Hansen S, Bar HP, MacDougall L. Homocystinuria: Excretion of a new sulphur containing amino acid in urine. Science 1966; 152: 776.

104. Boers GHJ, Smals AGH, Drayer JIM, Trijbels FJM, Leermakers AI, Kloppenborg PWC. Pyridoxine treatment does not prevent homocystinemia after methionine loading in adult homocystinuria patients. Metabolism 1983; 32: 390-7.

105. Uhlendorf  BW, Conerly EB, Mudd SH. Homocystinuria: studies in tissue culture. Pediatr Res 1973; 7: 645-58.

106. Fowler B, Kraus J, Packman S, Rosenberg LE. Homocystinuria: Evidence for 3 distinct classes of cystathionine b-synthase mutants in cultured fibroblasts. J Clin Invest 1978; 61: 645-53.

107. Hemraj F, Griffiths R. Enzyme studies in cystathionine b-synthase deficiency: a possible effect of elevated intracellular levels of homocystine in kinetic studies.
J Inher Metab Dis 1978; 1: 171-4.

108. Bittles AH, Carson NAJ. Homocystinuria: studies on cystathionine b-synthase, S-adenosylmethionine synthase and cystathionase activities in skin fibroblasts.
J Inher Metab Dis 1981; 4: 3-6.

109. Boers GHJ, Smals AGH, Trijbels JMF, Schoonderwaldt HC, Bakkeren JAJM, Kleyer WJ, Fowler B, Kloppenborg PWC. High frequency of heterozygotes for homocystinuria in premature occlusive peripheral and cerebral vascular disease. New Eng J Med 1985; 313: 709-15.

110. Fowler B, Sardharwalla IB. Homocystinuria: cystathionine synthase activity in cultured skin fibroblasts: In: International Symposium on inborn errors of metabolism in humans, Switzerland 1980: 20.

111. Kraus JP, Janosick M, Kozich V et al. Cystathionine b-synthase mutations in homocystinuria. Hum Mutat 1999; 13: 362-73.

112. Fowler B, Borresen AL, BomanN. Prenatal diagnosis of homocystinuria. Lancet 1982; 2: 875.

113. Burke G, Robinson K, Refsum H, Stuart B, Drumm J, Graham I. Intrauterine growth retardation, perinatal death and maternal homocysteine levels. N Engl J Med 1992; 326: 69.

114. Mudd SH. Discussion, in Carson NAJ, Raine DN (eds): Inherited Disorders of sulphur metabolism. London Churchill Livingstone, 1971, p 311.

115. Rassin DK, Longhi RC, Gaull GE. Free amino acids in liver of patients with homocystinuria due to cystathionine synthase: effects of vitamin B6. J Pediatr 1977; 91: 574-7.

116. Fleisher LD, Longhi RC, Tallan HH, Beratis NG, Hischhorn K, Gaull GE. Homocystinuria: investigations of cystathionine synthase in cultured fetal cells and the prenatal determination of genetic status. J Pediatr 1974; 85: 677-80.

117. Kurczynski TW, Muir WA, Fleisher LD, Palomaki JK, Gaull GE, Rassin DK, Abramowsky C. Maternal homocystinuria: studies of an untreated mother and fetus. Arch Dis Child 1980; 55: 721-3.

118. Mulvihill A, Yap S, Naughten ER, Howard PM, O’Keefe M. Ocular findings among patients with late-diagnosed or poorly controlled homocystinuria compared to a screened well-controlled population. J Am Assoc Pediat Ophthal & Strab 2001; 5: 311-5.

119. Yap S, Rushe H, Howard PM, Naughten ER. The intellectual abilities of early-treated individuals with pyridoxine nonresponsive homocystinuria due to cystathionine b-synthase deficiency. J Inher Metab Dis 2001; 24: 437-47.

120. Walter JH, Wraith JE, White FJ, Bridge C, Till J. Strategies for the treatment of cystathionine b-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years. Eur J Padiatr 1998; 157 (Suppl 2): S71-6.

121. Yap S, O’Donnell KA, O’Neill C, Mayne PD, ThorntonP, Naughten ER. Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine b-synthase deficiency. Thromb Haemost 1999; 81: 502-5.
 
  

 This paper should be referenced as such :
Yap S. Homocystinuria due to cystathionine b-synthase deficiency. Orphanet encyclopedia, May 2003:
http://www.orpha.net/data/patho/GB/uk-CbS.html

Address for correspondence:
Dr Sufin YAP
National Centre for Inherited Metabolic Disorders,
The Children’s University Hospital,
Temple Street, Dublin 1, and,
Our Lady’s Hospital for Sick Children,
Crumlin,
Ireland.