Results
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104.
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105.
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Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient. [electronic resource] by
- Ribes, A
- Briones, P
- Vilaseca, M A
- Lluch, M
- Rodes, M
- Maya, A
- Campistol, J
- Pascual, P
- Suormala, T
- Baumgartner, R
Producer: 19900607
In:
European journal of pediatrics vol. 149
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106.
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Phenotype and genotype heterogeneity in Mediterranean citrullinemia. [electronic resource] by
- Vilaseca, M A
- Kobayashi, K
- Briones, P
- Lambruschini, N
- Campistol, J
- Tabata, A
- Alomar, A
- Rodès, M
- Lluch, M
- Saheki, T
Producer: 20020108
In:
Molecular genetics and metabolism vol. 74
Availability: No items available.
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107.
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CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene. [electronic resource] by
- Vilaseca, M A
- Vilarinho, L
- Zavadakova, P
- Vela, E
- Cleto, E
- Pineda, M
- Coimbra, E
- Suormala, T
- Fowler, B
- Kozich, V
Producer: 20040401
In:
Journal of inherited metabolic disease vol. 26
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108.
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109.
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Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes. [electronic resource] by
- Mallolas, J
- Vilaseca, M A
- Pavia, C
- Lambruschini, N
- Cambra, F J
- Campistol, J
- Gómez, D
- Carrió, A
- Estivill, X
- Milà, M
Producer: 20011207
In:
Journal of molecular medicine (Berlin, Germany) vol. 78
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113.
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Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders. [electronic resource] by
- Montero, R
- Artuch, R
- Briones, P
- Nascimento, A
- García-Cazorla, A
- Vilaseca, M A
- Sánchez-Alcázar, J A
- Navas, P
- Montoya, J
- Pineda, M
Producer: 20061006
In:
BioFactors (Oxford, England) vol. 25
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115.
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Homocysteine and the MTHFR 677C-->T allele in premature coronary artery disease. Case control and family studies. [electronic resource] by
- Pintó, X
- Vilaseca, M A
- Garcia-Giralt, N
- Ferrer, I
- Palá, M
- Meco, J F
- Mainou, C
- Ordovás, J M
- Grinberg, D
- Balcells, S
Producer: 20010419
In:
European journal of clinical investigation vol. 31
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116.
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Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency. [electronic resource] by
- Quintana, E
- Gort, L
- Busquets, C
- Navarro-Sastre, A
- Lissens, W
- Moliner, S
- Lluch, M
- Vilaseca, M A
- De Meirleir, L
- Ribes, A
- Briones, P
Producer: 20100914
In:
Clinical genetics vol. 77
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117.
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Characterization of seven novel mutations in seven patients with GAMT deficiency. [electronic resource] by
- Item, C B
- Mercimek-Mahmutoglu, S
- Battini, R
- Edlinger-Horvat, C
- Stromberger, C
- Bodamer, O
- Mühl, A
- Vilaseca, M A
- Korall, H
- Stöckler-Ipsiroglu, S
Producer: 20040917
In:
Human mutation vol. 23
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118.
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Pilot study to validate a computer-based clinical decision support system for dyslipidemia treatment (HTE-DLP). [electronic resource] by
- Zamora, A
- Fernández de Bobadilla, F
- Carrion, C
- Vázquez, G
- Paluzie, G
- Elosua, R
- Vilaseca, M
- Martín-Urda, A
- Rivera, A
- Plana, N
- Masana, L
Producer: 20140728
In:
Atherosclerosis vol. 231
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119.
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Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome. [electronic resource] by
- Artuch, R
- Pavía, C
- Playán, A
- Vilaseca, M A
- Colomer, J
- Valls, C
- Rissech, M
- González, M A
- Pou, A
- Briones, P
- Montoya, J
- Pineda, M
Producer: 19981006
In:
Hormone research vol. 50
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120.
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Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders. [electronic resource] by
- Serrano, M
- Ormazábal, A
- Vilaseca, M A
- Lambruschini, N
- Garcia-Romero, R
- Meavilla, S
- Perez-Dueñas, B
- Pineda, M
- Garcia-Cazorla, A
- Campistol, J
- Artuch, R
Producer: 20111004
In:
Clinical biochemistry vol. 44
Availability: No items available.
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