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Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series

Molecular genetics and metabolism, 2010-04, Vol.99 (4), p.358-366

2010

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Chitotriosidase variants in patients with Gaucher disease. Implications for diagnosis and therapeutic monitoring

Clinical biochemistry, 2013-12, Vol.46 (18), p.1804-1807

2013

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Increased Intestinal Cholesterol Absorption in Autosomal Dominant Hypercholesterolemia and No Mutations in the Low-Density Lipoprotein Receptor or Apolipoprotein B Genes

The journal of clinical endocrinology and metabolism, 2007-09, Vol.92 (9), p.3667-3673

2007

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Caracterización de accesiones de garbanzo (Cicer arietinum L.) mediante descriptores morfo agronómicos cuantitativos en una colección del Banco de Germoplasma de la Universidad Nacional de Córdoba

RIA. Revista de investigaciones agropecuarias, 2020-05, Vol.46 (2), p.156-166

2020

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Characteristics of homozygous familial hypercholesterolemia in Spain

Atherosclerosis, 2016-09, Vol.252, p.e203-e203

2016

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Iron homeostasis and infIammatory biomarker analysis in patients with type 1 Gaucher disease

Blood cells, molecules, & diseases, 2014-12, Vol.53 (4), p.171-175

2014

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A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22

Clinical genetics, 2011-05, Vol.79 (5), p.475-481

2011

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Neurological evaluation of patients with Gaucher disease diagnosed as type 1

Journal of neurology, neurosurgery and psychiatry, 2008-02, Vol.79 (2), p.219-222

2008

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Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B

Clinical genetics, 2013-10, Vol.84 (4), p.356-361

2013

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Greater risk of parkinsonism associated with non-N370S GBA1 mutations

Journal of inherited metabolic disease, 2013-05, Vol.36 (3), p.575-580

2013

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Ten years of contested enforcement of the Forest Law in Salta, Argentina. The role of land-change science and political ecology

Journal of land use science, 2020-05, Vol.15 (2-3), p.221-234

2020

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Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population

Clinical genetics, 2012-05, Vol.81 (5), p.495-497

2012

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The effects of a history-based instructional material on the students' understanding of field lines

Journal of research in science teaching, 2007-01, Vol.44 (1), p.107-132

Pocovi, M. Cecilia

2007

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Changes in the atherogenic profile of patients with type 1 Gaucher disease after miglustat therapy

Atherosclerosis, 2010-04, Vol.209 (2), p.515-519

2010

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Complement regulation in murine and human hypercholesterolemia and role in the control of macrophage and smooth muscle cell proliferation

Cardiovascular research, 2007-11, Vol.76 (2), p.340-350

2007

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Metabolic syndrome and coronary heart disease among Spanish male workers: A case-control study of MESYAS

Nutrition, metabolism, and cardiovascular diseases, 2012-06, Vol.22 (6), p.510-516

2012

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P-064 Analysis and validation of the miRNA expression profile in plasma from patients diagnosed with myelodysplastic syndrome

Leukemia research, 2013-05, Vol.37, p.S51-S51

2013

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Análisis de la ontología de un concepto relativista: Inducción Electromagnética

Revista electrónica de investigación en educación en ciencias, 2020-12, Vol.15 (2), p.38-46

2020

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Association of plasma markers of cholesterol homeostasis with metabolic syndrome components. A cross-sectional study

Nutrition, metabolism, and cardiovascular diseases, 2011-09, Vol.21 (9), p.651-657

2011

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An NPC1L1 gene promoter variant is associated with autosomal dominant hypercholesterolemia

Nutrition, metabolism, and cardiovascular diseases, 2010-05, Vol.20 (4), p.236-242

2010

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High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent

Journal of medical genetics, 2005-04, Vol.42 (4), p.e23-e23

2005

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Report of the Spanish Gaucher's disease registry: clinical and genetic characteristics

Haematologica (Roma), 2000-08, Vol.85 (8), p.792

2000

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Haplotype analyses, mechanism and evolution of common double mutants in the human LDL receptor gene

Molecular genetics and genomics : MGG, 2010-06, Vol.283 (6), p.565-574

2010

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Hyperlipoproteinaemia(a) is a common cause of autosomal dominant hypercholesterolaemia

Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.970-977

2007

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S-MRI score: A simple method for assessing bone marrow involvement in Gaucher disease

European journal of radiology, 2007-04, Vol.62 (1), p.132-137

2007

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Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series

Chitotriosidase variants in patients with Gaucher disease. Implications for diagnosis and therapeutic monitoring

Increased Intestinal Cholesterol Absorption in Autosomal Dominant Hypercholesterolemia and No Mutations in the Low-Density Lipoprotein Receptor or Apolipoprotein B Genes

Caracterización de accesiones de garbanzo (Cicer arietinum L.) mediante descriptores morfo agronómicos cuantitativos en una colección del Banco de Germoplasma de la Universidad Nacional de Córdoba

Characteristics of homozygous familial hypercholesterolemia in Spain

Iron homeostasis and infIammatory biomarker analysis in patients with type 1 Gaucher disease

A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22

Neurological evaluation of patients with Gaucher disease diagnosed as type 1

Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B

Greater risk of parkinsonism associated with non-N370S GBA1 mutations

Ten years of contested enforcement of the Forest Law in Salta, Argentina. The role of land-change science and political ecology

Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population

The effects of a history-based instructional material on the students' understanding of field lines

Changes in the atherogenic profile of patients with type 1 Gaucher disease after miglustat therapy

Complement regulation in murine and human hypercholesterolemia and role in the control of macrophage and smooth muscle cell proliferation

Metabolic syndrome and coronary heart disease among Spanish male workers: A case-control study of MESYAS

P-064 Analysis and validation of the miRNA expression profile in plasma from patients diagnosed with myelodysplastic syndrome

Análisis de la ontología de un concepto relativista: Inducción Electromagnética

Association of plasma markers of cholesterol homeostasis with metabolic syndrome components. A cross-sectional study

An NPC1L1 gene promoter variant is associated with autosomal dominant hypercholesterolemia

High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent

Report of the Spanish Gaucher's disease registry: clinical and genetic characteristics

Haplotype analyses, mechanism and evolution of common double mutants in the human LDL receptor gene

Hyperlipoproteinaemia(a) is a common cause of autosomal dominant hypercholesterolaemia

S-MRI score: A simple method for assessing bone marrow involvement in Gaucher disease

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