80
References
1. Sun JM, Kurtzberg J. Cell therapy for diverse central nervous system disorders: inherited metabolic diseases and autism. Pediatr Res. 2018;83(1–2):364.
2. Dickson PI, Kaitila I, Harmatz P, Mlikotic A, Chen AH, Victoroff A, et al. Safety of laronidase
delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis
I. Mol Genet Metab. 2015;116(1-2):69–74.
3. Warnock DG, Bichet DG, Holida M, Goker-Alpan O, Nicholls K, Thomas M, et al. Oral migalastat HCl leads to greater systemic exposure and tissue levels of active α-galactosidase a in Fabry
patients when co-administered with infused agalsidase. PLoS One. 2015;10(8):e0134341.
4. Garrod A. The incidence of alkaptonuria: a study in chemical individuality. The Lancet.
1902;160(4137):1616–20.
5. Alfadhel M, Benmeakel M, Hossain MA, Al Mutairi F, Al Othaim A, Alfares AA, et al.
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting
in a tertiary center in Saudi Arabia. Orphanet J Rare Dis. 2016;11(1):126.
6. Illsinger S, Das AM. Impact of selected inborn errors of metabolism on prenatal and neonatal
development. IUBMB Life. 2010;62(6):403–13.
7. Ferreira CR, Van Karnebeek CD, Vockley J, Blau N. A proposed nosology of inborn errors of
metabolism. Genet Med. 2019;21(1):102.
8. Sanderson S, Green A, Preece M, Burton H. The incidence of inherited metabolic disorders in
the West Midlands, UK. Arch Dis Child. 2006;91(11):896–9.
9. Fridovich-Keil J, Wlater J. Galactosemia. In: Valle D, Beaudet A, Vogelstein B, Kinzler BW,
Antonarakis SE, Ballabio A, Scriver CR, editors. The online metabolic and molecular bases of
inherited disease. New York: McGraw-Hill; 2008.
10. Timmers I, Zhang H, Bastiani M, Jansma BM, Roebroeck A, Rubio-Gozalbo ME. White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion
and density imaging. J Inherit Metab Dis. 2015;38(2):295–304.
11. Coss K, Doran P, Owoeye C, Codd M, Hamid N, Mayne P, et al. Classical galactosaemia in Ireland: incidence, complications and outcomes of treatment. J Inherit Metab Dis.
2013;36(1):21–7.
12. Calderon FR, Phansalkar AR, Crockett DK, Miller M, Mao R. Mutation database for the
galactose- 1-phosphate uridyltransferase (GALT) gene. Hum Mutat. 2007;28(10):939–43.
13. Hartnett C, Kim H-O, Scaman CH. Effect of processing on galactose in selected fruits. Can J
Diet Pract Res. 2007;68(1):46–50.
14. Ali S, Khan RI, Azhar. Galactosemia: A Genetic Disease of Leloir Pathway. Int J Sci Res
Technol. 2017;3(4):389–97.
15. Van Calcar SC, Bernstein LE, Rohr FJ, Scaman CH, Yannicelli S, Berry GT. A re-evaluation
of life-long severe galactose restriction for the nutrition management of classic galactosemia.
Mol Genet Metab. 2014;112(3):191–7.
16. Tang M, Odejinmi S, Vankayalapati H, Wierenga K, Lai K. Innovative therapy for classic
galactosemia—tale of two HTS. Mol Genet Metab. 2012;105(1):44–55.
17. Scriver CR, Kaufman S. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In:
Scriver CR, Beaudet AL, Sly SW, et al., editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p. 1667–724.
18. Blau N, Van Spronsen FJ, Levy HL. Phenylketonuria. The Lancet. 2010;376(9750):1417–27.
19. Thöny B, Blau N. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I,
6- pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase,
and dihydropteridine reductase. Hum Mutat. 2006;27(9):870–8.
20. Lindner M. Treatment of phenylketonuria variants: European recommendations. PKU and
BH4: advances in phenylketonuria and tetrahydrobiopterin. Heilbronn: SPS Verlagsgesellschaft
mbH; 2006. p. 18087.
21. LaClair CE, Ney DM, MacLeod EL, Etzel MR. Purification and use of glycomacropeptide for
nutritional management of phenylketonuria. J Food Sci. 2009;74(4):E199–206.
M. Shahid et al.
References
1. Sun JM, Kurtzberg J. Cell therapy for diverse central nervous system disorders: inherited metabolic diseases and autism. Pediatr Res. 2018;83(1–2):364.
2. Dickson PI, Kaitila I, Harmatz P, Mlikotic A, Chen AH, Victoroff A, et al. Safety of laronidase
delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis
I. Mol Genet Metab. 2015;116(1-2):69–74.
3. Warnock DG, Bichet DG, Holida M, Goker-Alpan O, Nicholls K, Thomas M, et al. Oral migalastat HCl leads to greater systemic exposure and tissue levels of active α-galactosidase a in Fabry
patients when co-administered with infused agalsidase. PLoS One. 2015;10(8):e0134341.
4. Garrod A. The incidence of alkaptonuria: a study in chemical individuality. The Lancet.
1902;160(4137):1616–20.
5. Alfadhel M, Benmeakel M, Hossain MA, Al Mutairi F, Al Othaim A, Alfares AA, et al.
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting
in a tertiary center in Saudi Arabia. Orphanet J Rare Dis. 2016;11(1):126.
6. Illsinger S, Das AM. Impact of selected inborn errors of metabolism on prenatal and neonatal
development. IUBMB Life. 2010;62(6):403–13.
7. Ferreira CR, Van Karnebeek CD, Vockley J, Blau N. A proposed nosology of inborn errors of
metabolism. Genet Med. 2019;21(1):102.
8. Sanderson S, Green A, Preece M, Burton H. The incidence of inherited metabolic disorders in
the West Midlands, UK. Arch Dis Child. 2006;91(11):896–9.
9. Fridovich-Keil J, Wlater J. Galactosemia. In: Valle D, Beaudet A, Vogelstein B, Kinzler BW,
Antonarakis SE, Ballabio A, Scriver CR, editors. The online metabolic and molecular bases of
inherited disease. New York: McGraw-Hill; 2008.
10. Timmers I, Zhang H, Bastiani M, Jansma BM, Roebroeck A, Rubio-Gozalbo ME. White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion
and density imaging. J Inherit Metab Dis. 2015;38(2):295–304.
11. Coss K, Doran P, Owoeye C, Codd M, Hamid N, Mayne P, et al. Classical galactosaemia in Ireland: incidence, complications and outcomes of treatment. J Inherit Metab Dis.
2013;36(1):21–7.
12. Calderon FR, Phansalkar AR, Crockett DK, Miller M, Mao R. Mutation database for the
galactose- 1-phosphate uridyltransferase (GALT) gene. Hum Mutat. 2007;28(10):939–43.
13. Hartnett C, Kim H-O, Scaman CH. Effect of processing on galactose in selected fruits. Can J
Diet Pract Res. 2007;68(1):46–50.
14. Ali S, Khan RI, Azhar. Galactosemia: A Genetic Disease of Leloir Pathway. Int J Sci Res
Technol. 2017;3(4):389–97.
15. Van Calcar SC, Bernstein LE, Rohr FJ, Scaman CH, Yannicelli S, Berry GT. A re-evaluation
of life-long severe galactose restriction for the nutrition management of classic galactosemia.
Mol Genet Metab. 2014;112(3):191–7.
16. Tang M, Odejinmi S, Vankayalapati H, Wierenga K, Lai K. Innovative therapy for classic
galactosemia—tale of two HTS. Mol Genet Metab. 2012;105(1):44–55.
17. Scriver CR, Kaufman S. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In:
Scriver CR, Beaudet AL, Sly SW, et al., editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p. 1667–724.
18. Blau N, Van Spronsen FJ, Levy HL. Phenylketonuria. The Lancet. 2010;376(9750):1417–27.
19. Thöny B, Blau N. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I,
6- pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase,
and dihydropteridine reductase. Hum Mutat. 2006;27(9):870–8.
20. Lindner M. Treatment of phenylketonuria variants: European recommendations. PKU and
BH4: advances in phenylketonuria and tetrahydrobiopterin. Heilbronn: SPS Verlagsgesellschaft
mbH; 2006. p. 18087.
21. LaClair CE, Ney DM, MacLeod EL, Etzel MR. Purification and use of glycomacropeptide for
nutritional management of phenylketonuria. J Food Sci. 2009;74(4):E199–206.
M. Shahid et al.