E. Riudor

发表

Plasma free fatty acids in mitochondrial fatty acid oxidation defects.

G. Jiménez-Sánchez, A. Ribes, P. Divry, 1997, Clinica chimica acta; international journal of clinical chemistry.

Proteomic analysis in cerebrospinal fluid of patients with atypical nonketotic hyperglycinemia and pulmonary hypertension – A pilot study

J. A. Arranz, F. Canals, J. Bech-Serra, 2009, Proteomics. Clinical applications.

Plasma urea-cycle-related amino acids, ammonium levels, and urinary orotic acid excretion in short-bowel patients managed with an oral diet.

M. Farriol, J. Soler, N. Virgili, 2003, Clinical nutrition.

INSULIN RECEPTORS IN A PATIENT WITH A PANCREATIC INSULINOMA

C. Rey-Joly, X. Formiguera, M. Foz, 1984, The Lancet.

Safety of Ornithine Phenylacetate in Cirrhotic Decompensated Patients: An Open-label, Dose-escalating, Single-cohort Study

J. A. Arranz, P. Suñé, J. Córdoba, 2013, Journal of clinical gastroenterology.

Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension

J. A. Arranz, Y. Matsubara, S. Kure, 2006, Annals of neurology.

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.

Robert W. Taylor, J. A. Arranz, F. Tort, 2016, Mitochondrion (Amsterdam. Print).

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease

J. A. Arranz, F. Tort, A. Ribes, 2013, Journal of Inherited Metabolic Disease.

The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

R. Wanders, A. Ribes, P. Briones, 1996, Pediatric neurology.

Bilateral striatal lesions in childhood.

À. Rovira, A. Macaya, M. Calopa, 1993, Pediatric neurology.

Requirement of high biotin doses in a case of biotinidase deficiency

J. Suñé, A. Ribes, P. Briones, 1989, Journal of Inherited Metabolic Disease.

Commentary: Neonatal onset in fatty acid oxidation disorders: How can we minimize morbidity and mortality?

E. Riudor, 1998, Journal of Inherited Metabolic Disease.

Significance of bound glutarate in the diagnosis of glutaric aciduria type I

A. Ribes, D. Millington, E. Christensen, 1992, Journal of Inherited Metabolic Disease.

Hyperlactatemia and in utero exposure to antiretrovirals: is the control group the clue?

J. A. Arranz, P. Soler-Palacín, A. Martín-Nalda, 2012, AIDS research and human retroviruses.

Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants

J. A. Arranz, E. Riudor, M. Rodés, 2000, Journal of Inherited Metabolic Disease.

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.

Marta A. Uzarska, J. A. Arranz, F. Tort, 2011, American journal of human genetics.

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

J. A. Arranz, C. Marco-Marín, E. Riudor, 2007, Journal of Inherited Metabolic Disease.

Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency

E. Lamantea, A. Ribes, A. Barceló, 1998, European Journal of Pediatrics.

Insulin receptors in human placenta in relation to fetal weight and gestational age.

N. Potau, E. Riudor, Á. Ballabriga, 1981, Pediatric research.

Massive 5-oxoprolinuria with normal 5-oxoprolinase and glutathione synthetase activities

J. A. Arranz, A. Larsson, E. Ristoff, 2001, Journal of Inherited Metabolic Disease.

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.

J. A. Arranz, M. Roig, E. Riudor, 1999, Clinical chemistry.

Screening for nuclear genetic defects in the ATP synthase‐associated genes TMEM70, ATP12 and ATP5E in patients with 3‐methylglutaconic aciduria

F. Tort, A. Ribes, W. Lissens, 2011, Clinical genetics.

Glycogen Storage Disease Type III with Hypoketosis

J. A. Arranz, M. Clemente, A. Carrascosa, 2010, Journal of pediatric endocrinology & metabolism : JPEM.

A new case of C6–C14 dicarboxylic aciduria with favourable evolution

A. Ribes, M. Boronat, E. Riudor, 1986, Journal of Inherited Metabolic Disease.

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

J. A. Arranz, B. Cormand, C. Pérez-Cerdá, 2002, Human mutation.

Ornithine phenylacetate prevents disturbances of motor-evoked potentials induced by intestinal blood in rats with portacaval anastomosis.

J. A. Arranz, J. Córdoba, Jordi Romero-Giménez, 2012, Journal of hepatology.

Liver transplantation in two children with tyrosinaemia type I: Biochemical aspects

E. Holme, A. Ribes, C. Jakobs, 1991, Journal of Inherited Metabolic Disease.

Pearson syndrome: Altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities

A. Rötig, A. Salvá, A. Ribes, 1993, Journal of Inherited Metabolic Disease.

Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome

L. Armengol, M. Milá, I. Madrigal, 2007, Journal of Inherited Metabolic Disease.

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.

J. A. Arranz, F. Tort, A. Ribes, 2016, Mitochondrion.