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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1957 2
1963 1
1964 2
1965 2
1966 4
1967 1
1968 7
1969 7
1970 9
1971 9
1972 12
1973 15
1974 15
1975 22
1976 14
1977 18
1978 14
1979 14
1980 17
1981 9
1982 11
1983 16
1984 14
1985 18
1986 11
1987 14
1988 16
1989 15
1990 21
1991 35
1992 26
1993 65
1994 68
1995 78
1996 86
1997 102
1998 126
1999 147
2000 177
2001 169
2002 192
2003 176
2004 202
2005 182
2006 179
2007 178
2008 158
2009 168
2010 188
2011 217
2012 258
2013 205
2014 185
2015 222
2016 177
2017 169
2018 139
2019 152
2020 158
2021 142
2022 83
2023 78
2024 104
2025 131
2026 84

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5,044 results

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Page 1
Dersimelagon in Erythropoietic Protoporphyrias.
Balwani M, Bonkovsky HL, Levy C, Anderson KE, Bissell DM, Parker C, Takahashi F, Desnick RJ, Belongie K; Endeavor Investigators. Balwani M, et al. N Engl J Med. 2023 Apr 13;388(15):1376-1385. doi: 10.1056/NEJMoa2208754. N Engl J Med. 2023. PMID: 37043653 Clinical Trial.
The primary end point was the change from baseline to week 16 in the time to the first prodromal symptom associated with sunlight exposure. Patients recorded daily sunlight exposure and symptom data in an electronic diary. ...CONCLUSIONS: At both doses evaluated, de …
The primary end point was the change from baseline to week 16 in the time to the first prodromal symptom associated with sunlight exp …
Tyrosine hydroxylase deficiency in Taiwanese infants.
Chi CS, Lee HF, Tsai CR. Chi CS, et al. Pediatr Neurol. 2012 Feb;46(2):77-82. doi: 10.1016/j.pediatrneurol.2011.11.012. Pediatr Neurol. 2012. PMID: 22264700
We analyzed the clinical manifestations, genetic mutations, treatment responses to L-dopa, and long-term neurologic outcomes in Taiwanese infants with tyrosine hydroxylase deficiency. From 1999 to May 2011, we enrolled six infants who had been diagnosed with tyro …
We analyzed the clinical manifestations, genetic mutations, treatment responses to L-dopa, and long-term neurologic outcomes in Taiwanese in …
Neonatal screening tests.
Mamunes P. Mamunes P. Pediatr Clin North Am. 1980 Nov;27(4):733-51. doi: 10.1016/s0031-3955(16)33923-2. Pediatr Clin North Am. 1980. PMID: 7005846 Review. No abstract available.
Phenylalanine deficiency syndrome.
Rouse BM. Rouse BM. J Pediatr. 1966 Aug;69(2):246-9. doi: 10.1016/s0022-3476(66)80327-x. J Pediatr. 1966. PMID: 5946650 No abstract available.
Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy.
Grattan-Smith PJ, Wevers RA, Steenbergen-Spanjers GC, Fung VS, Earl J, Wilcken B. Grattan-Smith PJ, et al. Mov Disord. 2002 Mar;17(2):354-9. doi: 10.1002/mds.10095. Mov Disord. 2002. PMID: 11921123
We describe the clinical course of an infant with tyrosine hydroxylase (TOH) deficiency over a 30-month period. The parents are consanguineous, and genetic analysis revealed the infant to be homozygous for the common G698A mutation in the TOH gene. TOH deficiency …
We describe the clinical course of an infant with tyrosine hydroxylase (TOH) deficiency over a 30-month period. The parents ar …
Pharmacologic inhibition of L-tyrosine degradation ameliorates cerebral dopamine deficiency in murine phenylketonuria (PKU).
Harding CO, Winn SR, Gibson KM, Arning E, Bottiglieri T, Grompe M. Harding CO, et al. J Inherit Metab Dis. 2014 Sep;37(5):735-43. doi: 10.1007/s10545-013-9675-2. Epub 2014 Feb 3. J Inherit Metab Dis. 2014. PMID: 24487571 Free PMC article.
Monoamine neurotransmitter deficiency has been implicated in the etiology of neuropsychiatric symptoms associated with chronic hyperphenylalaninemia in phenylketonuria (PKU). Two proposed explanations for neurotransmitter deficiency in PKU include first, that …
Monoamine neurotransmitter deficiency has been implicated in the etiology of neuropsychiatric symptoms associated with chronic …
Tyrosinemia II: lessons in molecular pathophysiology.
Goldsmith LA. Goldsmith LA. Pediatr Dermatol. 1983 Jul;1(1):25-34. doi: 10.1111/j.1525-1470.1983.tb01088.x. Pediatr Dermatol. 1983. PMID: 6149527 Review.
Tyrosinemia II is caused by a deficiency of hepatic tyrosine aminotransferase. With the deficiency of this key enzyme of tyrosine catabolism there is an increase in plasma tyrosine and then an increase in tyrosine metabolites in the urine …
Tyrosinemia II is caused by a deficiency of hepatic tyrosine aminotransferase. With the deficiency of this key enzyme o …
Biochemical hallmarks of tyrosine hydroxylase deficiency.
Bräutigam C, Wevers RA, Jansen RJ, Smeitink JA, de Rijk-van Andel JF, Gabreëls FJ, Hoffmann GF. Bräutigam C, et al. Clin Chem. 1998 Sep;44(9):1897-904. Clin Chem. 1998. PMID: 9732974
We report the biochemical hallmarks of tyrosine hydroxylase deficiency with emphasis on reliable diagnostic strategies of four new cases of an inborn error of tyrosine hydroxylase (TH). ...Strict adherence to a standardized lumbar puncture protocol and adequa …
We report the biochemical hallmarks of tyrosine hydroxylase deficiency with emphasis on reliable diagnostic strategies of four …
Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.
Liu TT, Chiang SH, Wu SJ, Hsiao KJ. Liu TT, et al. Clin Chim Acta. 2001 Nov;313(1-2):157-69. doi: 10.1016/s0009-8981(01)00669-6. Clin Chim Acta. 2001. PMID: 11694255
The most common forms of BH4 deficiency are 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency (MIM 261640) and dihydropteridine reductase (DHPR) deficiency (MIM 261630), which require a different treatment from classical HPA. RESULTS: Approximately 86% o …
The most common forms of BH4 deficiency are 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency (MIM 261640) and dihydropte …
5,044 results