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Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study

Human mutation, 2009-05, Vol.30 (5), p.741-748

2009

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Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies

European journal of obstetrics & gynecology and reproductive biology, 2005-05, Vol.120 (1), p.45-52

2005

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Are plasma total homocysteine and other amino acids associated with glucose intolerance in uncomplicated pregnancies and preeclampsia?

European journal of obstetrics & gynecology and reproductive biology, 2005-03, Vol.119 (1), p.36-41

2005

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Hyperlactatemia in human immunodeficiency virus-uninfected infants who are exposed to antiretrovirals

Pediatrics (Evanston), 2004-11, Vol.114 (5), p.e598-e603

2004

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A new fatal case of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency

Molecular genetics and metabolism, 2008-02, Vol.93 (2), p.216-218

2008

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Total homocysteine in pediatric patients

Clinical chemistry (Baltimore, Md.), 1997-04, Vol.43 (4), p.690-692

1997

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Plasma total homocysteine in uncomplicated pregnancy and in preeclampsia

European journal of obstetrics & gynecology and reproductive biology, 2003-05, Vol.108 (1), p.45-49

2003

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Guiametabolica.org: empowerment through internet tools in inherited metabolic diseases

Orphanet journal of rare diseases, 2012-08, Vol.7 (1), p.53-53, Article 53

2012

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cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression

Human mutation, 2005-03, Vol.25 (3), p.239-247

2005

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Is deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria?

Clinical biochemistry, 2005-12, Vol.38 (12), p.1127-1132

2005

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Decreased serum ubiquinone-10 concentrations in phenylketonuria

The American journal of clinical nutrition, 1999-11, Vol.70 (5), p.892-895

1999

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Perinatal outcome prediction by maternal homocysteine and uterine artery Doppler velocimetry

European journal of obstetrics & gynecology and reproductive biology, 2004-03, Vol.113 (1), p.61-66

2004

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Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease

European journal of paediatric neurology, 2001, Vol.5 (3), p.127-131

2001

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cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression

Human mutation, 2005-12, Vol.26 (6), p.590-590

2005

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Personal Experience with the Application of Carbohydrate-Deficient Transferrin (CDT) Assays to the Detection of Congenital Disorders of Glycosylation

Clinical chemistry and laboratory medicine, 2000-10, Vol.38 (10), p.965-969

2000

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Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes

Journal of molecular medicine (Berlin, Germany), 2001-02, Vol.78 (12), p.721-724

2001

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Comentarios bibliográficos

Clínica e investigación en arteriosclerosis, 2007-04, Vol.19 (2), p.109-110

Antonia Vilaseca, M.

2007

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R. Carnicer M. Navarro J.M. Arbones-Mainar S. Acin M.A. Guzman J.C. Surra C. Arnal M. De Las Heras F. Blanco-Vaca J. Osada La suplementación con ácido fólico retrasa el desarrollo de lesions ateroscleróticas en ratones apo E deficientes Folic acid supplementation delays atherosclerotic lesion development in apoE-deficient mice Life Sci 80 2007 638 643

Clínica e investigación en arteriosclerosis, 2007, Vol.19 (2), p.109-110

Antonia Vilaseca, M.

2007

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Anti-Epileptic drug treatment in children: Hyperhomocysteinaemia, B-Vitamins and the 677C→T Mutation of the Methylenetetrahydrofolate Reductase Gene

European journal of paediatric neurology, 2000, Vol.4 (6), p.269-277

2000

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Errores congénitos del metabolismo: ¿causa de estrés oxidativo?

Medicina clínica, 2000, Vol.115 (3), p.111-117

2000

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Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation

Human genetics, 1999-11, Vol.105 (5), p.468-473

1999

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A folate-rich diet is as effective as folic acid from supplements in decreasing plasma homocysteine concentrations

International journal of medical sciences, 2005-04, Vol.2 (2), p.58-63

2005

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Selective screening for hyperhomocysteinemia in pediatric patients

Clinical chemistry (Baltimore, Md.), 1998-03, Vol.44 (3), p.662-664

1998

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Antioxidant status in hyperphenylalaninemia

Clinica chimica acta, 1998-08, Vol.276 (1), p.1-9

1998

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Neurological, neuropsychological, and ophthalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients

Revista de neurologiá, 2012-08, Vol.55 (4), p.200-206

2012

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Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study

Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies

Are plasma total homocysteine and other amino acids associated with glucose intolerance in uncomplicated pregnancies and preeclampsia?

Hyperlactatemia in human immunodeficiency virus-uninfected infants who are exposed to antiretrovirals

A new fatal case of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency

Total homocysteine in pediatric patients

Plasma total homocysteine in uncomplicated pregnancy and in preeclampsia

Guiametabolica.org: empowerment through internet tools in inherited metabolic diseases

cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression

Is deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria?

Decreased serum ubiquinone-10 concentrations in phenylketonuria

Perinatal outcome prediction by maternal homocysteine and uterine artery Doppler velocimetry

Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression

Personal Experience with the Application of Carbohydrate-Deficient Transferrin (CDT) Assays to the Detection of Congenital Disorders of Glycosylation

Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes

Comentarios bibliográficos

Anti-Epileptic drug treatment in children: Hyperhomocysteinaemia, B-Vitamins and the 677C→T Mutation of the Methylenetetrahydrofolate Reductase Gene

Errores congénitos del metabolismo: ¿causa de estrés oxidativo?

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation

A folate-rich diet is as effective as folic acid from supplements in decreasing plasma homocysteine concentrations

Selective screening for hyperhomocysteinemia in pediatric patients

Antioxidant status in hyperphenylalaninemia

Neurological, neuropsychological, and ophthalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients

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