[1]
Liu S,Kuht HJ,Moon EH,Maconachie GDE,Thomas MG, Current and emerging treatments for albinism. Survey of ophthalmology. 2021 Mar-Apr;
[PubMed PMID: 33129801]
Level 3 (low-level) evidence
[2]
Lock EA, From Weed Killer to Wonder Drug. Advances in experimental medicine and biology. 2017;
[PubMed PMID: 28755195]
Level 3 (low-level) evidence
[3]
Aktuglu-Zeybek AC,Kiykim E,Cansever MS, Hereditary Tyrosinemia Type 1 in Turkey. Advances in experimental medicine and biology. 2017;
[PubMed PMID: 28755194]
Level 3 (low-level) evidence
[4]
Scott CR, The genetic tyrosinemias. American journal of medical genetics. Part C, Seminars in medical genetics. 2006 May 15;
[PubMed PMID: 16602095]
[5]
Das AM, Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1). The application of clinical genetics. 2017;
[PubMed PMID: 28769581]
[8]
Beru N,Sahr K,Goldwasser E, Inhibition of heme synthesis in bone marrow cells by succinylacetone: effect on globin synthesis. Journal of cellular biochemistry. 1983;
[PubMed PMID: 6193131]
[9]
Silbergeld EK,Hruska RE,Bradley D,Lamon JM,Frykholm BC, Neurotoxic aspects of porphyrinopathies: lead and succinylacetone. Environmental research. 1982 Dec;
[PubMed PMID: 7160360]
[10]
Chinsky JM,Singh R,Ficicioglu C,van Karnebeek CDM,Grompe M,Mitchell G,Waisbren SE,Gucsavas-Calikoglu M,Wasserstein MP,Coakley K,Scott CR, Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations. Genetics in medicine : official journal of the American College of Medical Genetics. 2017 Dec;
[PubMed PMID: 28771246]
Level 3 (low-level) evidence
[11]
Adam MP,Everman DB,Mirzaa GM,Pagon RA,Wallace SE,Bean LJH,Gripp KW,Amemiya A,Sniderman King L,Trahms C,Scott CR, Tyrosinemia Type I. GeneReviews(®). 1993;
[PubMed PMID: 20301688]
[12]
Abbas K,Basit J,Rehman MEU, Adequacy of nitisinone for the management of alkaptonuria. Annals of medicine and surgery (2012). 2022 Aug;
[PubMed PMID: 36045846]
[13]
Soltysova A,Kuzin A,Samarkina E,Zatkova A, Alkaptonuria in Russia. European journal of human genetics : EJHG. 2022 Feb;
[PubMed PMID: 34504318]
[14]
Ranganath LR,Milan AM,Hughes AT,Khedr M,Norman BP,Alsbou M,Imrich R,Gornall M,Sireau N,Gallagher JA,Jackson R, Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria-An approach using statistical modelling. JIMD reports. 2022 Jan;
[PubMed PMID: 35028273]
[15]
Kubasch AS, Meurer M. [Oculocutaneous and ocular albinism]. Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete. 2017 Nov:68(11):867-875. doi: 10.1007/s00105-017-4061-x. Epub
[PubMed PMID: 29018889]
[16]
Adams DR,Menezes S,Jauregui R,Valivullah ZM,Power B,Abraham M,Jeffrey BG,Garced A,Alur RP,Cunningham D,Wiggs E,Merideth MA,Chiang PW,Bernstein S,Ito S,Wakamatsu K,Jack RM,Introne WJ,Gahl WA,Brooks BP, One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B. JCI insight. 2019 Jan 24;
[PubMed PMID: 30674731]
Level 3 (low-level) evidence
[18]
Wolffenbuttel BHR,Heiner-Fokkema MR,van Spronsen FJ, Preventive use of nitisinone in alkaptonuria. Orphanet journal of rare diseases. 2021 Aug 3;
[PubMed PMID: 34344451]
[19]
Schlune A,Thimm E,Herebian D,Spiekerkoetter U, Single dose NTBC-treatment of hereditary tyrosinemia type I. Journal of inherited metabolic disease. 2012 Sep;
[PubMed PMID: 22307209]
[20]
Kienstra NS,van Reemst HE,van Ginkel WG,Daly A,van Dam E,MacDonald A,Burgerhof JGM,de Blaauw P,McKiernan PJ,Heiner-Fokkema MR,van Spronsen FJ, Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day. Journal of inherited metabolic disease. 2018 Mar;
[PubMed PMID: 29170874]
[21]
Pharmacoeconomic Review Report: Nitisinone (MDK-Nitisinone): (MendeliKABS Inc.): Indication: for the treatment of HT-1 in combination with dietary restriction of tyrosine and phenylalanine. 2018 Apr;
[PubMed PMID: 30457776]
[23]
Vitiello L,De Bernardo M,Guercio Nuzio S,Mandato C,Rosa N,Vajro P, Pediatric liver diseases and ocular changes: What hepatologists and ophthalmologists should know and share with each other. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver. 2020 Jan;
[PubMed PMID: 31843253]
[24]
Lock EA,Ellis MK,Gaskin P,Robinson M,Auton TR,Provan WM,Smith LL,Prisbylla MP,Mutter LC,Lee DL, From toxicological problem to therapeutic use: the discovery of the mode of action of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), its toxicology and development as a drug. Journal of inherited metabolic disease. 1998 Aug;
[PubMed PMID: 9728330]
[25]
Kassel R,Sprietsma L,Rudnick DA, Pregnancy in an NTBC-treated patient with hereditary tyrosinemia type I. Journal of pediatric gastroenterology and nutrition. 2015 Jan;
[PubMed PMID: 23838819]
[26]
Huledal G,Olsson B,Önnestam K,Dalén P,Lindqvist D,Kruse M,Bröijersén A, Non randomized study on the potential of nitisinone to inhibit cytochrome P450 2C9, 2D6, 2E1 and the organic anion transporters OAT1 and OAT3 in healthy volunteers. European journal of clinical pharmacology. 2019 Mar;
[PubMed PMID: 30443705]
Level 1 (high-level) evidence
[27]
Miners JO,Birkett DJ, Cytochrome P4502C9: an enzyme of major importance in human drug metabolism. British journal of clinical pharmacology. 1998 Jun;
[PubMed PMID: 9663807]
[28]
Elhawary NA,AlJahdali IA,Abumansour IS,Elhawary EN,Gaboon N,Dandini M,Madkhali A,Alosaimi W,Alzahrani A,Aljohani F,Melibary EM,Kensara OA, Genetic etiology and clinical challenges of phenylketonuria. Human genomics. 2022 Jul 19;
[PubMed PMID: 35854334]
[29]
Hughes JH,Wilson PJM,Sutherland H,Judd S,Hughes AT,Milan AM,Jarvis JC,Bou-Gharios G,Ranganath LR,Gallagher JA, Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria. Journal of inherited metabolic disease. 2020 Mar;
[PubMed PMID: 31503358]
[30]
Khedr M,Judd S,Briggs MC,Hughes AT,Milan AM,Stewart RMK,Lock EA,Gallagher JA,Ranganath LR, Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria. JIMD reports. 2018;
[PubMed PMID: 28942493]