81
22. Ney D, Gleason S, Van Calcar S, MacLeod E, Nelson K, Etzel M, et al. Nutritional management
of PKU with glycomacropeptide from cheese whey. J Inherit Metab Dis. 2009;32(1):32–9.
23. Zurflüh MR, Zschocke J, Lindner M, Feillet F, Chery C, Burlina A, et al. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum Mut.
2008;29(1):167–75.
24. Al Hafid N, Christodoulou J. Phenylketonuria: a review of current and future treatments.
Translational Pediatr. 2015;4(4):304.
25. Raivio K, Seegmiller J. Genetic diseases of metabolism. Annu Rev Biochem.
1972;41(1):543–76.
26. Parenti G, Andria G, Ballabio A. Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med. 2015;66:471–86.
27. Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, et al. Lysoplex:
an efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Autophagy. 2015;11(6):928–38.
28. Szklarczyk D, Franceschini A, Wyder S, Forslund K, Heller D, Huerta-Cepas J, et al. STRING
v10: protein–protein interaction networks, integrated over the tree of life. Nucleic Acids Res.
2014;43(D1):D447–D52.
29. Beck M. Treatment strategies for lysosomal storage disorders. Dev Med Child Neurol.
2018;60(1):13–8.
30. Cox TM. Innovative treatments for lysosomal diseases. Best Pract Res Clin Endocrinol Metab.
2015;29(2):275–311.
31. Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system
function. Am J Med. 1964;36(4):561–70.
32. Seegmiller JE, Rosenbloom FM, Kelley WN. Enzyme defect associated with a sex-linked
human neurological disorder and excessive purine synthesis. Science. 1967;155(3770):1682–4.
33. Nyhan WL. The Lesch-Nyhan syndrome. Annu Rev Med. 1973;24(1):41–60.
34. Micheli V, Bertelli M, Jacomelli G, Santucci A, Bernardini G. Lesch-Nyhan disease: a rare
disorder with many unresolved aspects. Medical University; 2018.
35. Balis ME, Krakoff IH, Berman PH, Dancis J. Urinary metabolites in congenital hyperuricosuria. Science. 1967;156(3778):1122–3.
36. Saemundsson S, Roberts M. Oral self-injurious behavior in the developmentally disabled:
review and a case. ASDC J Dent Child. 1997;64(3):205–9.. 28
37. Olson L, Houlihan D. A review of behavioral treatments used for Lesch-Nyhan syndrome.
Behav Modif. 2000;24(2):202–22.
38. Pralong E, Pollo C, Coubes P, Bloch J, Roulet E, Tetreault M, et al. Electrophysiological
characteristics of limbic and motor globus pallidus internus (GPI) neurons in two cases of
Lesch–Nyhan syndrome. Neurophysiol Clin/Clin Neurophysiol. 2005;35(5-6):168–73.
39. Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med. 2003;349(8):776–88.
40. Turcu AF, Auchus RJ. Adrenal steroidogenesis and congenital adrenal hyperplasia. Endocrino
Metab Clin. 2015;44(2):275–96.
41. New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, et al. Genotype–
phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to
21-hydroxylase deficiency. Proc Natl Acad Sci. 2013;110(7):2611–6.
42. Balsamo A, Cicognani A, Baldazzi L, Barbaro M, Baronio F, Gennari M, et al. CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2003;88(12):5680–8.
43. Muthusamy K, Elamin MB, Smushkin G, Murad MH, Lampropulos JF, Elamin KB, et al.
Adult height in patients with congenital adrenal hyperplasia: a systematic review and metaanalysis. J Clin Endocrinol Metab. 2010;95(9):4161–72.
44. El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. The Lancet.
2017;390(10108):2194–210.
45. Trapp CM, Levine LS, Oberfield SE. Congenital adrenal hyperplasia. In: Pediatric endocrinology. New York: Springer; 2018. p. 311–34.
4 Inherited Metabolic Disorders: A Current Status
22. Ney D, Gleason S, Van Calcar S, MacLeod E, Nelson K, Etzel M, et al. Nutritional management
of PKU with glycomacropeptide from cheese whey. J Inherit Metab Dis. 2009;32(1):32–9.
23. Zurflüh MR, Zschocke J, Lindner M, Feillet F, Chery C, Burlina A, et al. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum Mut.
2008;29(1):167–75.
24. Al Hafid N, Christodoulou J. Phenylketonuria: a review of current and future treatments.
Translational Pediatr. 2015;4(4):304.
25. Raivio K, Seegmiller J. Genetic diseases of metabolism. Annu Rev Biochem.
1972;41(1):543–76.
26. Parenti G, Andria G, Ballabio A. Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med. 2015;66:471–86.
27. Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, et al. Lysoplex:
an efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Autophagy. 2015;11(6):928–38.
28. Szklarczyk D, Franceschini A, Wyder S, Forslund K, Heller D, Huerta-Cepas J, et al. STRING
v10: protein–protein interaction networks, integrated over the tree of life. Nucleic Acids Res.
2014;43(D1):D447–D52.
29. Beck M. Treatment strategies for lysosomal storage disorders. Dev Med Child Neurol.
2018;60(1):13–8.
30. Cox TM. Innovative treatments for lysosomal diseases. Best Pract Res Clin Endocrinol Metab.
2015;29(2):275–311.
31. Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system
function. Am J Med. 1964;36(4):561–70.
32. Seegmiller JE, Rosenbloom FM, Kelley WN. Enzyme defect associated with a sex-linked
human neurological disorder and excessive purine synthesis. Science. 1967;155(3770):1682–4.
33. Nyhan WL. The Lesch-Nyhan syndrome. Annu Rev Med. 1973;24(1):41–60.
34. Micheli V, Bertelli M, Jacomelli G, Santucci A, Bernardini G. Lesch-Nyhan disease: a rare
disorder with many unresolved aspects. Medical University; 2018.
35. Balis ME, Krakoff IH, Berman PH, Dancis J. Urinary metabolites in congenital hyperuricosuria. Science. 1967;156(3778):1122–3.
36. Saemundsson S, Roberts M. Oral self-injurious behavior in the developmentally disabled:
review and a case. ASDC J Dent Child. 1997;64(3):205–9.. 28
37. Olson L, Houlihan D. A review of behavioral treatments used for Lesch-Nyhan syndrome.
Behav Modif. 2000;24(2):202–22.
38. Pralong E, Pollo C, Coubes P, Bloch J, Roulet E, Tetreault M, et al. Electrophysiological
characteristics of limbic and motor globus pallidus internus (GPI) neurons in two cases of
Lesch–Nyhan syndrome. Neurophysiol Clin/Clin Neurophysiol. 2005;35(5-6):168–73.
39. Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med. 2003;349(8):776–88.
40. Turcu AF, Auchus RJ. Adrenal steroidogenesis and congenital adrenal hyperplasia. Endocrino
Metab Clin. 2015;44(2):275–96.
41. New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, et al. Genotype–
phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to
21-hydroxylase deficiency. Proc Natl Acad Sci. 2013;110(7):2611–6.
42. Balsamo A, Cicognani A, Baldazzi L, Barbaro M, Baronio F, Gennari M, et al. CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2003;88(12):5680–8.
43. Muthusamy K, Elamin MB, Smushkin G, Murad MH, Lampropulos JF, Elamin KB, et al.
Adult height in patients with congenital adrenal hyperplasia: a systematic review and metaanalysis. J Clin Endocrinol Metab. 2010;95(9):4161–72.
44. El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. The Lancet.
2017;390(10108):2194–210.
45. Trapp CM, Levine LS, Oberfield SE. Congenital adrenal hyperplasia. In: Pediatric endocrinology. New York: Springer; 2018. p. 311–34.
4 Inherited Metabolic Disorders: A Current Status