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

Year Number of Results
1948 2
1949 1
1950 2
1951 3
1952 3
1953 2
1954 1
1956 4
1957 7
1958 4
1959 2
1960 4
1961 9
1962 6
1963 12
1964 16
1965 25
1966 24
1967 31
1968 26
1969 31
1970 27
1971 27
1972 20
1973 16
1974 24
1975 18
1976 14
1977 18
1978 30
1979 22
1980 15
1981 18
1982 33
1983 14
1984 24
1985 26
1986 31
1987 35
1988 36
1989 33
1990 34
1991 36
1992 40
1993 39
1994 28
1995 33
1996 26
1997 43
1998 39
1999 38
2000 37
2001 44
2002 25
2003 39
2004 32
2005 32
2006 36
2007 33
2008 35
2009 27
2010 29
2011 27
2012 28
2013 38
2014 16
2015 21
2016 35
2017 34
2018 28
2019 19
2020 22
2021 25
2022 25
2023 28
2024 16
2025 13

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1,712 results

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Page 1
Refsum's disease.
Wills AJ, Manning NJ, Reilly MM. Wills AJ, et al. QJM. 2001 Aug;94(8):403-6. doi: 10.1093/qjmed/94.8.403. QJM. 2001. PMID: 11493716 Review. No abstract available.
Refsum's syndrome.
Levy IS. Levy IS. Trans Ophthalmol Soc U K (1962). 1970;90:181-6. Trans Ophthalmol Soc U K (1962). 1970. PMID: 4104195 No abstract available.
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
Wierzbicki AS, Lloyd MD, Schofield CJ, Feher MD, Gibberd FB. Wierzbicki AS, et al. J Neurochem. 2002 Mar;80(5):727-35. doi: 10.1046/j.0022-3042.2002.00766.x. J Neurochem. 2002. PMID: 11948235 Review.
Mutant forms of PAHX have been shown to be responsible for some, but not all, cases of Refsum's disease. Certain cases have been shown to be atypical mild variants of rhizomelic chondrodysplasia punctata type 1a. ...A sterol-carrier protein-2 (SCP-2) knockout mouse …
Mutant forms of PAHX have been shown to be responsible for some, but not all, cases of Refsum's disease. Certain cases have be …
Refsum's disease.
Wolff O. Wolff O. Dev Med Child Neurol. 1967 Aug;9(4):501-2. doi: 10.1111/j.1469-8749.1967.tb02309.x. Dev Med Child Neurol. 1967. PMID: 4166632 No abstract available.
Refsum's disease.
[No authors listed] [No authors listed] Br Med J. 1967 Mar 18;1(5541):650. Br Med J. 1967. PMID: 4163816 Free PMC article. No abstract available.
[Pronounced band keratopathy in Refsum's syndrome].
Weinstein I, Fries FN, Hartmann M, Abdin AD, Seitz B. Weinstein I, et al. Ophthalmologie. 2022 Jul;119(7):741-743. doi: 10.1007/s00347-021-01428-y. Epub 2021 Jun 9. Ophthalmologie. 2022. PMID: 34106314 German. No abstract available.
Refsum's disease.
RAVIN MB, SCHWARTZ H. RAVIN MB, et al. Anesthesiology. 1962 Mar-Apr;23:269-71. Anesthesiology. 1962. PMID: 14490660 No abstract available.
[Refsum's syndrome].
Curcio FI, Lambre JP, Garcia Carrasco MA, Curcio HF. Curcio FI, et al. Prensa Med Argent. 1971 Nov 5;58(36):1783-8. Prensa Med Argent. 1971. PMID: 4110564 Spanish. No abstract available.
Peroxisomes, Refsum's disease and the alpha- and omega-oxidation of phytanic acid.
Wanders RJ, Komen JC. Wanders RJ, et al. Biochem Soc Trans. 2007 Nov;35(Pt 5):865-9. doi: 10.1042/BST0350865. Biochem Soc Trans. 2007. PMID: 17956234 Review.
We also describe our recent data on the omega-oxidation of phytanic acid, especially since pharmacological up-regulation of this pathway may form the basis of a new treatment strategy for ARD (adult Refsum's disease). In patients suffering from ARD, phytanic acid ac …
We also describe our recent data on the omega-oxidation of phytanic acid, especially since pharmacological up-regulation of this pathway may …
[Refsum's syndrome].
Kijima S. Kijima S. Nihon Rinsho. 1977 Spring;35 Suppl 1:1338-9. Nihon Rinsho. 1977. PMID: 77344 Japanese. No abstract available.
1,712 results