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

Year Number of Results
1947 1
1957 1
1958 1
1968 1
1979 1
1983 1
1987 3
1988 6
1989 5
1990 2
1991 7
1992 2
1993 1
1994 4
1995 12
1996 7
1997 4
1998 3
1999 5
2000 5
2001 6
2002 7
2003 2
2004 12
2005 8
2006 10
2007 8
2008 12
2009 12
2010 9
2011 10
2012 12
2013 13
2014 20
2015 28
2016 42
2017 37
2018 30
2019 39
2020 28
2021 34
2022 23
2023 31
2024 11

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452 results

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The following term was not found in PubMed: Diliara
Page 1
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA. Morris AA, et al. J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. J Inherit Metab Dis. 2017. PMID: 27778219 Free PMC article. Review.
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C. Huemer M, et al. J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30. J Inherit Metab Dis. 2017. PMID: 27905001 Free PMC article. Review.
Galactosaemia.
Sardharwalla IB, Wraith JE. Sardharwalla IB, et al. Nutr Health. 1987;5(3-4):175-88. doi: 10.1177/026010608700500408. Nutr Health. 1987. PMID: 3328119 Review.
This paper reviews galactosaemia and describes the experience of the Willink Biochemical Genetics Unit in the management of classical galactosaemia. ...
This paper reviews galactosaemia and describes the experience of the Willink Biochemical Genetics Unit in the management of classical …
Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group. Gentner B, et al. N Engl J Med. 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596. N Engl J Med. 2021. PMID: 34788506 Clinical Trial.
L-Carnitine.
Walter JH. Walter JH. Arch Dis Child. 1996 Jun;74(6):475-8. doi: 10.1136/adc.74.6.475. Arch Dis Child. 1996. PMID: 8758120 Free PMC article. Review. No abstract available.
Lysosomal disorders.
Wraith JE. Wraith JE. Semin Neonatol. 2002 Feb;7(1):75-83. doi: 10.1053/siny.2001.0088. Semin Neonatol. 2002. PMID: 12069540 Review.
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.
Kishnani PS, Kronn D, Brassier A, Broomfield A, Davison J, Hahn SH, Kumada S, Labarthe F, Ohki H, Pichard S, Prakalapakorn SG, Haack KA, Kittner B, Meng X, Sparks S, Wilson C, Zaher A, Chien YH; Mini-COMET Investigators. Kishnani PS, et al. Genet Med. 2023 Feb;25(2):100328. doi: 10.1016/j.gim.2022.10.010. Epub 2022 Dec 21. Genet Med. 2023. PMID: 36542086 Free article. Clinical Trial.
Ornithine carbamoyltransferase deficiency.
Wraith JE. Wraith JE. Arch Dis Child. 2001 Jan;84(1):84-88. doi: 10.1136/adc.84.1.84. Arch Dis Child. 2001. PMID: 11124797 Free PMC article. Review. No abstract available.
Optic neuropathy in methylmalonic acidemia and propionic acidemia.
Martinez Alvarez L, Jameson E, Parry NR, Lloyd C, Ashworth JL. Martinez Alvarez L, et al. Br J Ophthalmol. 2016 Jan;100(1):98-104. doi: 10.1136/bjophthalmol-2015-306798. Epub 2015 Jul 24. Br J Ophthalmol. 2016. PMID: 26209586 Review.
METHODS: Retrospective observational case series. A database of patients attending the Willink Biochemical Genetics unit in Manchester was interrogated. ...
METHODS: Retrospective observational case series. A database of patients attending the Willink Biochemical Genetics unit in Mancheste …
Two new species of mealybugs (Hemiptera: Coccomorpha: Pseudococcidae) from Japan.
Tanaka H, Sasaki D, Choi J, Husnik F, Kamitani S. Tanaka H, et al. Zootaxa. 2022 Jul 22;5168(3):306-318. doi: 10.11646/zootaxa.5168.3.3. Zootaxa. 2022. PMID: 36101284
Phenacoccus miruku is similar to P. sisymbriifolium Granara de Willink 2007 and P. similis Granara de Willink 1983, but differs by lacking quinqelocular pores anterior to the mouthparts and translucent pores on the hind tibiae, and in the shape of the circulus. ...
Phenacoccus miruku is similar to P. sisymbriifolium Granara de Willink 2007 and P. similis Granara de Willink 1983, but differ …
452 results