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

Year Number of Results
1914 1
1947 2
1948 4
1949 3
1950 8
1951 9
1952 8
1953 11
1954 9
1955 2
1956 7
1957 11
1958 13
1959 3
1960 10
1961 4
1962 6
1963 12
1964 12
1965 17
1966 14
1967 11
1968 14
1969 15
1970 11
1971 15
1972 16
1973 16
1974 14
1975 12
1976 7
1977 5
1978 8
1979 12
1980 12
1981 11
1982 11
1983 8
1984 8
1985 18
1986 23
1987 15
1988 22
1989 22
1990 26
1991 24
1992 21
1993 27
1994 20
1995 19
1996 20
1997 26
1998 26
1999 39
2000 36
2001 51
2002 46
2003 40
2004 43
2005 27
2006 40
2007 43
2008 43
2009 46
2010 41
2011 42
2012 41
2013 40
2014 50
2015 58
2016 69
2017 69
2018 54
2019 55
2020 57
2021 58
2022 39
2023 53
2024 57
2025 3

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1,787 results

Results by year

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Page 1
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O; International Working Group on Neurotransmitter related Disorders (iNTD). Opladen T, et al. Among authors: hoffmann gf. Orphanet J Rare Dis. 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8. Orphanet J Rare Dis. 2020. PMID: 32456656 Free PMC article. Review.
Newborn screening-progress and challenges.
Hoffmann GF, Cornejo V, Pollitt RJ. Hoffmann GF, et al. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S199-200. doi: 10.1007/s10545-010-9191-6. J Inherit Metab Dis. 2010. PMID: 20835763 No abstract available.
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
Reischl-Hajiabadi AT, Schnabel E, Gleich F, Mengler K, Lindner M, Burgard P, Posset R, Lommer-Steinhoff S, Grünert SC, Thimm E, Freisinger P, Hennermann JB, Krämer J, Gramer G, Lenz D, Christ S, Hörster F, Hoffmann GF, Garbade SF, Kölker S, Mütze U. Reischl-Hajiabadi AT, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2024 Jul;47(4):674-689. doi: 10.1002/jimd.12731. Epub 2024 Apr 2. J Inherit Metab Dis. 2024. PMID: 38563533
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Hammann N, Lenz D, Baric I, Crushell E, Vici CD, Distelmaier F, Feillet F, Freisinger P, Hempel M, Khoreva AL, Laass MW, Lacassie Y, Lainka E, Larson-Nath C, Li Z, Lipiński P, Lurz E, Mégarbané A, Nobre S, Olivieri G, Peters B, Prontera P, Schlieben LD, Seroogy CM, Sobacchi C, Suzuki S, Tran C, Vockley J, Wang JS, Wagner M, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Staufner C. Hammann N, et al. Among authors: hoffmann gf. Mol Genet Metab. 2024 Mar;141(3):108118. doi: 10.1016/j.ymgme.2023.108118. Epub 2024 Jan 11. Mol Genet Metab. 2024. PMID: 38244286 Free article.
Glycogen storage diseases of all types.
Hoffmann GF, Smit PA, Schoser B. Hoffmann GF, et al. J Inherit Metab Dis. 2015 May;38(3):389-90. doi: 10.1007/s10545-015-9848-2. J Inherit Metab Dis. 2015. PMID: 25940909 No abstract available.
Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.
Mengler K, Garbade SF, Gleich F, Thimm E, May P, Lindner M, Lüsebrink N, Marquardt T, Hübner V, Krämer J, Neugebauer J, Beblo S, Gillitzer C, Grünert SC, Hennermann JB, Kamrath C, Marquardt I, Näke A, Murko S, Schmidt S, Schnabel E, Lommer-Steinhoff S, Hoffmann GF, Beime J, Santer R, Kölker S, Mütze U. Mengler K, et al. Among authors: hoffmann gf. Pediatrics. 2024 Aug 1;154(2):e2023064370. doi: 10.1542/peds.2023-064370. Pediatrics. 2024. PMID: 38957900
Erythropoietic and hepatic porphyrias.
Gross U, Hoffmann GF, Doss MO. Gross U, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2000 Nov;23(7):641-61. doi: 10.1023/a:1005645624262. J Inherit Metab Dis. 2000. PMID: 11117426 Review.
Does a Mediterranean-Type Diet Reduce Cancer Risk?
Schwingshackl L, Hoffmann G. Schwingshackl L, et al. Among authors: hoffmann g. Curr Nutr Rep. 2016;5:9-17. doi: 10.1007/s13668-015-0141-7. Epub 2015 Sep 23. Curr Nutr Rep. 2016. PMID: 27014505 Free PMC article. Review.
Maintenance treatment of glutaryl-CoA dehydrogenase deficiency.
Mühlhausen C, Hoffmann GF, Strauss KA, Kölker S, Okun JG, Greenberg CR, Naughten ER, Ullrich K. Mühlhausen C, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2004;27(6):885-92. doi: 10.1023/B:BOLI.0000045773.07785.83. J Inherit Metab Dis. 2004. PMID: 15505396 Review.
1,787 results