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Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants

Gene, 2022-01, Vol.808, p.145967-145967, Article 145967

2022

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Noninvasive diagnosis of hypolactasia with 4-Galactosylxylose (Gaxilose): a multicentre, open-label, phase IIB-III nonrandomized trial

Journal of clinical gastroenterology, 2014-01, Vol.48 (1), p.29-36

2014

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Clinical guidelines for late-onset Pompe disease

Revista de neurologiá, 2012-04, Vol.54 (8), p.497-507

2012

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Uveal melanoma in a 19-month-old child

Journal of AAPOS, 2011-12, Vol.15 (6), p.606-608

2011

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Sequence Variants in BMPR2 and Genes Involved in the Serotonin and Nitric Oxide Pathways in Idiopathic Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension: Relation to Clinical Parameters and Comparison with Left Heart Disease

Respiration, 2010-01, Vol.79 (4), p.279-287

2010

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Phase I and phase IB clinical trials for the noninvasive evaluation of intestinal lactase with 4-galactosylxylose (gaxilose)

Journal of clinical gastroenterology, 2013-07, Vol.47 (6), p.501-508

2013

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Identification of the first deletion–insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element

Gene, 2013-04, Vol.519 (1), p.169-172

2013

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Variability in the clinical presentation of Pompe disease: development following enzyme replacement therapy

Revista de neurologiá, 2015-11, Vol.61 (9), p.416-420

2015

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The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.248-258

2015

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Identification of eight new mutations in the GCK gene by DHPLC screening in a Spanish population

Diabetes research and clinical practice, 2009-07, Vol.85 (1), p.20-23

2009

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Persistent delivery of factor IX in mice : Gene therapy for hemophilia using implantable microcapsules

Human gene therapy, 1999-05, Vol.10 (8), p.1281-1288

1999

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Expression and Characterization of the Naturally Occurring Mutation L394R in Human γ-Glutamyl Carboxylase

The Journal of biological chemistry, 2000-10, Vol.275 (42), p.32572-32577

2000

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Genomic sequence and transcription start site for the human γ-glutamyl carboxylase

Blood, 1997-06, Vol.89 (11), p.4058-4062

1997

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Development of new expression vector based on Pseudorabies virus amplicons: application to human insulin expression

Virus research, 2002-10, Vol.89 (1), p.123-129

2002

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A Missense Mutation in γ-Glutamyl Carboxylase Gene Causes Combined Deficiency of All Vitamin K-Dependent Blood Coagulation Factors

Blood, 1998-12, Vol.92 (12), p.4554-4559

1998

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Identification of twenty-one new mutations in the factor IX gene by SSCP analysis

Human mutation, 1999, Vol.13 (2), p.160-165

1999

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Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene

American journal of human genetics, 1992-05, Vol.50 (5), p.1022-1026

1992

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Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site

American journal of human genetics, 1992-02, Vol.50 (2), p.434-437

1992

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Influence of past infection with SARS-CoV-2 on the response to the BNT162b2 mRNA vaccine in health care workers: Kinetics and durability of the humoral immune response

EBioMedicine, 2021-11, Vol.73, p.103656-103656, Article 103656

2021

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Chronic Brucellosis and Persistence of Brucella melitensis DNA

Journal of Clinical Microbiology, 2009-07, Vol.47 (7), p.2084-2089

2009

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Project INSIDE: towards autonomous semi-unstructured human–robot social interaction in autism therapy

Artificial intelligence in medicine, 2019-05, Vol.96, p.198-216

2019

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Use of Real-Time Quantitative Polymerase Chain Reaction to Monitor the Evolution of Brucella melitensis DNA Load During Therapy and Post-Therapy Follow-Up in Patients with Brucellosis

Clinical infectious diseases, 2006-05, Vol.42 (9), p.1266-1273

2006

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Mathematical modelling of the waning of anti-RBD IgG SARS-CoV-2 antibody titers after a two-dose BNT162b2 mRNA vaccination

Frontiers in immunology, 2023-01, Vol.14, p.1097747

2023

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Four-month incidence of suicidal thoughts and behaviors among healthcare workers after the first wave of the Spain COVID-19 pandemic

Journal of psychiatric research, 2022-05, Vol.149, p.10-17

2022

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Use of pectoralis major myofascial flap on the prevention of pharyngocutaneous fístula in salvage laryngectomy after chemoradiotherapy

Acta oto-laryngologica, 2019-10, Vol.139 (10), p.926-929

2019

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Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants

Noninvasive diagnosis of hypolactasia with 4-Galactosylxylose (Gaxilose): a multicentre, open-label, phase IIB-III nonrandomized trial

Clinical guidelines for late-onset Pompe disease

Uveal melanoma in a 19-month-old child

Sequence Variants in BMPR2 and Genes Involved in the Serotonin and Nitric Oxide Pathways in Idiopathic Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension: Relation to Clinical Parameters and Comparison with Left Heart Disease

Phase I and phase IB clinical trials for the noninvasive evaluation of intestinal lactase with 4-galactosylxylose (gaxilose)

Identification of the first deletion–insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element

Variability in the clinical presentation of Pompe disease: development following enzyme replacement therapy

The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies

Identification of eight new mutations in the GCK gene by DHPLC screening in a Spanish population

Persistent delivery of factor IX in mice : Gene therapy for hemophilia using implantable microcapsules

Expression and Characterization of the Naturally Occurring Mutation L394R in Human γ-Glutamyl Carboxylase

Genomic sequence and transcription start site for the human γ-glutamyl carboxylase

Development of new expression vector based on Pseudorabies virus amplicons: application to human insulin expression

A Missense Mutation in γ-Glutamyl Carboxylase Gene Causes Combined Deficiency of All Vitamin K-Dependent Blood Coagulation Factors

Identification of twenty-one new mutations in the factor IX gene by SSCP analysis

Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene

Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site

Influence of past infection with SARS-CoV-2 on the response to the BNT162b2 mRNA vaccine in health care workers: Kinetics and durability of the humoral immune response

Chronic Brucellosis and Persistence of Brucella melitensis DNA

Project INSIDE: towards autonomous semi-unstructured human–robot social interaction in autism therapy

Use of Real-Time Quantitative Polymerase Chain Reaction to Monitor the Evolution of Brucella melitensis DNA Load During Therapy and Post-Therapy Follow-Up in Patients with Brucellosis

Mathematical modelling of the waning of anti-RBD IgG SARS-CoV-2 antibody titers after a two-dose BNT162b2 mRNA vaccination

Four-month incidence of suicidal thoughts and behaviors among healthcare workers after the first wave of the Spain COVID-19 pandemic

Use of pectoralis major myofascial flap on the prevention of pharyngocutaneous fístula in salvage laryngectomy after chemoradiotherapy

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