Search Results - "R. Artuch"

Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system by Marti-Sanchez, L, Ortigoza-Escobar, J D, Darling, A, Villaronga, M, Baide, H, Molero-Luis, M, Batllori, M, Vanegas, M I, Muchart, J, Aquino, L, Artuch, R, Macaya, A, Kurian, M A, Dueñas, Pérez

“…The SLC39A14, SLC30A10 and SLC39A8 are considered to be key genes involved in manganese (Mn) homeostasis in humans. Mn levels in plasma and urine are useful…”
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Diseases of the synaptic vesicle: a potential new group of neurometabolic disorders affecting neurotransmission by Cortès-Saladelafont, EMD, Tristán-Noguero, A, Artuch, R., MD, PhD, Altafaj, X., PhD, Bayès, A., PhD, García-Cazorla, A., MD, PhD

“…Abstract The general concept of inborn error of metabolism is currently evolving and travels to the interface between classical biochemistry and cellular…”
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A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities by Yubero, D., Adin, A., Montero, R., Jou, C., Jiménez-Mallebrera, C., García-Cazorla, A., Nascimento, A., O’Callaghan, M. M., Montoya, J., Gort, L., Navas, P., Ribes, A., Ugarte, M. D., Artuch, R.

“…Laboratory data interpretation for the assessment of complex biological systems remains a great challenge, as occurs in mitochondrial function research…”
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Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism by Oyarzabal, A., Bravo-Alonso, I., Sánchez-Aragó, M., Rejas, M.T., Merinero, B., García-Cazorla, A., Artuch, R., Ugarte, M., Rodríguez-Pombo, P.

“…Mutations on the mitochondrial-expressed Branched Chain α-Keto acid Dehydrogenase Kinase (BCKDK) gene have been recently associated with a novel…”
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Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency by Matos, I.Vaz, Castejón, E., Meavilla, S., O'Callaghan, M., Garcia-Villoria, J., López-Sala, A., Ribes, A., Artuch, R., Garcia-Cazorla, A.

“…CblC deficiency produces a combination of methylmalonic aciduria (MMA) and homocystinuria (HCU), and is the most common error of cobalamin metabolism. Patients…”
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Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas by Sarrión, P., Sangorrin, A., Urreizti, R., Delgado, A., Artuch, R., Martorell, L., Armstrong, J., Anton, J., Torner, F., Vilaseca, M. A., Nevado, J., Lapunzina, P., Asteggiano, C. G., Balcells, S., Grinberg, D.

“…Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have…”
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DTI in early treated PKU: The first study in pediatric Spanish population by González, M.J, Rebollo, M, Ripolles, P, Gassió, R, Artuch, R, Campistol, J

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Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment by Temudo, T, Rios, M, Prior, C, Carrilho, I, Santos, M, Maciel, P, Sequeiros, J, Fonseca, M, Monteiro, J, Cabral, P, Vieira, J.P, Ormazabal, A, Artuch, R

“…Abstract Background: Rett disorder (RD) is a progressive neurodevelopmental entity caused by mutations in the MECP2 gene. It has been postulated that there are…”
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MITOCHONDRIAL DISEASES ASSOCIATED WITH CEREBRAL FOLATE DEFICIENCY by GARCIA-CAZORLA, A, QUADROS, E. V, ARENAS, J, PINEDA, M, RAMAEKERS, V. T, NASCIMENTO, A, GARCIA-SILVA, M. T, BRIONES, P, MONTOYA, J, ORMAZABAL, A, ARTUCH, R, SEQUEIRA, J. M, BLAU, N

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Secondary abnormalities of neurotransmitters in infants with neurological disorders by García‐Cazorla, A, Serrano, M, Pérez‐Dueñas, B, González, V, Ormazábal, A, Pineda, M, Fernández‐álvarez, E, Campistol, J M D, Artuch, R M D

“…Neurotransmitters are essential in young children for differentiation and neuronal growth of the developing nervous system. We aimed to identify possible…”
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Infantile parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency by Ortez, C., Jou, C., Cortès-Saladelafont, E., Moreno, J., Pérez, A., Ormazábal, A., Pérez-Cerdá, C., Pérez, B., Artuch, R., Cusi, V., García-Cazorla, A.

“…Pyruvate carboxylase deficiency is a rare metabolic disorder, with three different phenotypes. We aim to report the case of a newborn presenting the severe…”
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Sleep study in early treated phenylketonurics patients relationship with melatonin and serotonin status by Gassio, R, González, M.J, Sans, O, Artuch, R, Sierra, C, Ormazabal, A, Cuadras, D, Campistol, J

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Spinocerebellar ataxia type 29 in 2 siblings manifesting as coQ10 deficiency by Spanou, M, Anagnostopoulou, K, Stephanede, A, Tsirouda, M, Giorgi, M, Koutsaki, M, Artuch, R, Dinopoulos, A

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Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency by Ortez, C., Duarte, S.T., Ormazábal, A., Serrano, M., Pérez, A., Pons, R., Pineda, M., Yapici, Z., Fernández-Álvarez, E., Domingo-Jiménez, R., De Castro, P., Artuch, R., García-Cazorla, A.

“…Tyrosine hydroxylase (TH) deficiency is an inborn error of dopamine biosynthesis and a cause of early parkinsonism. Two clinical phenotypes have been…”
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Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome by Ramaekers, V T, Sequeira, J M, Artuch, R, Blau, N, Temudo, T, Ormazabal, A, Pineda, M, Aracil, A, Roelens, F, Laccone, F, Quadros, E V

“…Rett syndrome was associated with low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF) in 42-50% of European patients whereas approximately 93% of…”
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Hereditary spastic paraplegia and peroxisome biogenesis disorders: Case report of a patient with mutations in PEX10 gene by Nascimento, A, Ortez, C, Sariego, A, Gerotina, E, Armstrong, J, Sierra, C, Artuch, R, Jou, C, Jimenez-Mallebrera, C, Colomer, J

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Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia) by Casado, M., O’Callaghan, M. M., Montero, R., Pérez-Cerda, C., Pérez, B., Briones, P., Quintana, E., Muchart, J., Aracil, A., Pineda, M., Artuch, R.

“…Phosphomannomutase 2 deficiency (PMM2-CDG) patients may present as mild phenotypes, with the cerebellum frequently involved. In those cases, false-negative…”
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Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment by Bravo-Alonso, I., Oyarzabal, A., Sánchez-Aragó, M., Rejas, M.T., Merinero, B., García-Cazorla, A., Artuch, R., Ugarte, M., Rodríguez-Pombo, P.

“…This data article contains complementary figures to the research article “Mitochondrial response to the BCKDK-deficiency: some clues to understand the positive…”
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PP03.2 – 2683: Next generation sequencing allows the identification of NDUFS4 defect in a patient with fatal early Leigh syndrome and deficiencies in pyruvate dehydrogenase and multiple respiratory chain complexes by Escobar, J.D. Ortigoza, Oyarzabal, A, Montero, R, Artuch, R, Gort, L, Briones, P, González, B. Pérez, Rodriguez-Pombo, P, Dueñas, B. Pérez

“…Objective Respiratory chain complex (RCC) I is the second most common biochemical abnormality causing Leigh syndrome (LS), an early-onset neurodegenerative…”
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Quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase deficiency (PMM2-CDG) by Serrano, N.L, Cuadras, D, de Diego, V, Martínez-Monseny, A.F, Velázquez-Fragua, R, López, L, Felipe, A, Miranda, M.C, Carratala, F, Couce, M.L, Gutierrez-Solana, L.G, Macaya, A, Muchart, J, Montero, R, Artuch, R, Pérez-Cerdá, C, Pérez, B, Itzep, D, Pérez-Dueñas, B, Serrano, M

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