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Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2.
Ofman R, Hettema EH, Hogenhout EM, Caruso U, Muijsers AO, Wanders RJ. Ofman R, et al. Among authors: caruso u. Hum Mol Genet. 1998 May;7(5):847-53. doi: 10.1093/hmg/7.5.847. Hum Mol Genet. 1998. PMID: 9536089
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
Houten SM, Koster J, Romeijn GJ, Frenkel J, Di Rocco M, Caruso U, Landrieu P, Kelley RI, Kuis W, Poll-The BT, Gibson KM, Wanders RJ, Waterham HR. Houten SM, et al. Among authors: caruso u. Eur J Hum Genet. 2001 Apr;9(4):253-9. doi: 10.1038/sj.ejhg.5200595. Eur J Hum Genet. 2001. PMID: 11313768
Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D.
Di Rocco M, Caruso U, Waterham HR, Picco P, Loy A, Wanders RJ. Di Rocco M, et al. Among authors: caruso u. J Inherit Metab Dis. 2001 Jun;24(3):411-2. doi: 10.1023/a:1010525206818. J Inherit Metab Dis. 2001. PMID: 11486909 No abstract available.
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation.
Fiumara A, van Kuilenburg AB, Caruso U, Nucifora C, Marzullo E, Barone R, Meli C, van Gennip AH. Fiumara A, et al. Among authors: caruso u. J Inherit Metab Dis. 2003;26(4):407-9. doi: 10.1023/a:1025123622821. J Inherit Metab Dis. 2003. PMID: 12971429
Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia.
Mudd SH, Cerone R, Schiaffino MC, Fantasia AR, Minniti G, Caruso U, Lorini R, Watkins D, Matiaszuk N, Rosenblatt DS, Schwahn B, Rozen R, LeGros L, Kotb M, Capdevila A, Luka Z, Finkelstein JD, Tangerman A, Stabler SP, Allen RH, Wagner C. Mudd SH, et al. Among authors: caruso u. J Inherit Metab Dis. 2001 Aug;24(4):448-64. doi: 10.1023/a:1010577512912. J Inherit Metab Dis. 2001. PMID: 11596649
Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor.
Bonioli E, DiStefano A, Palmieri A, Bertola A, Bellini C, Caruso U, Fantasia AR, Minniti G, Dorche C. Bonioli E, et al. Among authors: caruso u. J Inherit Metab Dis. 1996;19(5):700-1. doi: 10.1007/BF01799850. J Inherit Metab Dis. 1996. PMID: 8892030 No abstract available.
Fumarate hydratase deficiency.
Bonioli E, Di Stefano A, Peri V, Caruso U, Cerone R, Lamantea E, Taroni F, Bellini C. Bonioli E, et al. Among authors: caruso u. J Inherit Metab Dis. 1998 Jun;21(4):435-6. doi: 10.1023/a:1005379330187. J Inherit Metab Dis. 1998. PMID: 9700607 No abstract available.
Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.
Giribaldi G, Doria-Lamba L, Biancheri R, Severino M, Rossi A, Santorelli FM, Schiaffino C, Caruso U, Piemonte F, Bruno C. Giribaldi G, et al. Among authors: caruso u. Dev Med Child Neurol. 2012 May;54(5):472-6. doi: 10.1111/j.1469-8749.2011.04151.x. Epub 2011 Dec 5. Dev Med Child Neurol. 2012. PMID: 22142326
X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation.
Schiaffino MC, Bellini C, Costabello L, Caruso U, Jakobs C, Salomons GS, Bonioli E. Schiaffino MC, et al. Among authors: caruso u. Neurogenetics. 2005 Sep;6(3):165-8. doi: 10.1007/s10048-005-0002-4. Epub 2005 Sep 28. Neurogenetics. 2005. PMID: 16086185
An abnormal amino acid pattern in adenosine deaminase deficiency.
Borrone C, Di Rocco M, Caruso U, Reali S. Borrone C, et al. Among authors: caruso u. J Inherit Metab Dis. 1985;8 Suppl 2:119. doi: 10.1007/BF01811487. J Inherit Metab Dis. 1985. PMID: 3930857 No abstract available.
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