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E Riudor

Explore the profile of E Riudor including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 26
Citations 180
Followers 0
Related Specialties
Pediatrics
Genetics
Biochemistry
Top 10 Co-Authors
A Ribes
J A Arranz
M Roig
P Briones
G Martinez
M Sentis
M Rodes
C Vianey-Saban
M Del Toro
V Rubio
Published In
J Inherit Metab Dis
Pediatr Neurol
Hum Mol Genet
Hum Mutat
Clin Genet
Affiliations
Soon will be listed here.
Recent Articles
1.
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria
Tort F, Del Toro M, Lissens W, Montoya J, Fernandez-Burriel M, Font A, et al.
Clin Genet . 2011 Aug; 80(3):297-300. PMID: 21815885
No abstract available.
2.
Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome
Arranz J, Madrigal I, Riudor E, Armengol L, Mila M
J Inherit Metab Dis . 2007 Jun; 30(5):813. PMID: 17570074
Ornithine transcarbamylase deficiency is an X-linked semidominant trait that is the most frequent inborn error of the urea cycle. Three hundred and fifty different mutations, including mostly point mutations and...
3.
Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential
Arranz J, Riudor E, Marco-Marin C, Rubio V
J Inherit Metab Dis . 2007 Mar; 30(2):217-26. PMID: 17334707
Ornithine transcarbamylase deficiency (OTCD), the X-linked, most frequent urea cycle error, results from mutations in the OTC gene, encoding a 354-residue polypeptide. To date 341 OTCD clinical mutations, including 222...
4.
Gene symbol: FAH. Disease: tyrosinaemia 1
Arranz A, Rigante D, Antuzzi D, Riudor E
Hum Genet . 2006 Mar; 118(3-4):537. PMID: 16521249
No abstract available.
5.
Plasma urea-cycle-related amino acids, ammonium levels, and urinary orotic acid excretion in short-bowel patients managed with an oral diet
Pita A, Wakabayashi Y, Fernandez-Bustos M, Virgili N, Riudor E, Soler J, et al.
Clin Nutr . 2003 Jan; 22(1):93-8. PMID: 12553956
Background And Aims: The small intestine contains several enzymes involved in arginine synthesis and converts glutamine to citrulline, the major compound for endogenous arginine synthesis. This study was conducted to...
6.
Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients
Arranz J, Pinol F, Kozak L, Perez-Cerda C, Cormand B, Ugarte M, et al.
Hum Mutat . 2002 Aug; 20(3):180-8. PMID: 12203990
Hereditary tyrosinemia type I (HTI) is an autosomal recessive disease characterized by a deficiency in fumarylacetoacetate hydrolase (FAH) activity. In this work, the FAH genotype was established in a group...
7.
Massive 5-oxoprolinuria with normal 5-oxoprolinase and glutathione synthetase activities
Riudor E, Arranz J, Alvarez R, Carlsson K, Del Toro M, Salmeron F, et al.
J Inherit Metab Dis . 2001 Aug; 24(3):404-6. PMID: 11486906
No abstract available.
8.
Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants
Riudor E, Arranz J, Rodes M, Rubio V, Sentis M, Burlina A
J Inherit Metab Dis . 2000 Dec; 23(7):662-8. PMID: 11117427
Measurement of urinary orotidine and orotic acid after an oral allopurinol challenge is an important diagnostic test for ornithine carbamoyltransferase deficiency that is sometimes used in infants (< 1 year...
9.
Optimization of allopurinol challenge: sample purification, protein intake control, and the use of orotidine response as a discriminative variable improve performance of the test for diagnosing ornithine carbamoyltransferase deficiency
Arranz J, Riudor E, Rodes M, Roig M, Climent C, Rubio V, et al.
Clin Chem . 1999 Jul; 45(7):995-1001. PMID: 10388475
Background: The diagnosis of heterozygosity for X-linked ornithine carbamoyltransferase (OCT) deficiency has usually been based on measurement of the increase of orotate and orotidine excretion after an allopurinol load. We...
10.
Medium-chain acyl-CoA dehydrogenase deficiency in Spain
Martinez G, Ribes A, Briones P, Rodes M, Baldellou A, Pineda M, et al.
J Inherit Metab Dis . 1998 Oct; 21(6):693-4. PMID: 9762615
No abstract available.