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Lysosomal Storage Diseases: From Pathophysiology to Therapy

Annual review of medicine, 2015-01, Vol.66 (1), p.471-486

2015

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Pharmacological Chaperone Therapy for Lysosomal Storage Diseases

Future medicinal chemistry, 2014-06, Vol.6 (9), p.1031-1045

2014

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Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function

The Journal of immunology (1950), 2017-05, Vol.198 (10), p.3803-3808

2017

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Pompe disease: from new views on pathophysiology to innovative therapeutic strategies

Current pharmaceutical biotechnology, 2011-06, Vol.12 (6), p.902-915

2011

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Therapeutic goals in the treatment of Gaucher disease

Seminars in hematology, 2004-10, Vol.41 (4 Suppl 5), p.4-14

2004

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Homocysteine lowering by folate-rich diet or pharmacological supplementations in subjects with moderate hyperhomocysteinemia

Nutrients, 2013-05, Vol.5 (5), p.1531-1543

2013

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New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

Italian journal of pediatrics, 2016-04, Vol.42 (1), p.39-39, Article 39

2016

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Progression of Renal Damage in Glycogen Storage Disease Type I Is Associated to Hyperlipidemia: A Multicenter Prospective Italian Study

The Journal of pediatrics, 2015-04, Vol.166 (4), p.1079-1082

2015

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Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

Pediatric radiology, 2015-07, Vol.45 (7), p.965-976

2015

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Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down syndrome

BMC medical genomics, 2013-07, Vol.6 (1), p.24-24, Article 24

2013

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Respiratory manifestations in patients with inherited metabolic diseases

European respiratory review, 2013-12, Vol.22 (130), p.437-453

2013

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Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment: Consensus statements

European journal of pediatrics, 2004-02, Vol.163 (2), p.58-66

2004

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Diagnosis and Management of Lysosomal Storage Disorders. Three Key Words: Early, Multidisciplinary, and Network

Cardiogenetics, 2013-02, Vol.3 (11), p.e1-e1

2013

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Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance

American Journal of Physiology: Cell Physiology, 2007-07, Vol.293 (1), p.C191-C198

2007

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Genotype/phenotype correlation in glycogen storage disease type 1b : a multicentre study and review of the literature

European journal of pediatrics, 2005-08, Vol.164 (8), p.501-508

2005

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The Growth Hormone-Insulin-like Growth Factor Axis in Glycogen Storage Disease Type 1: Evidence of Different Growth Patterns and Insulin-like Growth Factor Levels in Patients with Glycogen Storage Disease Type 1a and 1b

The Journal of pediatrics, 2010-04, Vol.156 (4), p.663-670.e1

2010

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The Role of Iron Toxicity in Oxidative Stress-induced Cellular Degeneration in Down Syndrome: Protective Effects of Phenolic Antioxidants

Current nutrition and food science, 2012-08, Vol.8 (3), p.206-212

2012

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Impact in Italy of research in pediatrics

Italian journal of pediatrics, 2014-08, Vol.40 (S1), p.A45-A45, Article A45

Andria, Generoso

2014

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Lysinuric protein intolerance: update and extended mutation analysis of theSLC7A7 gene

Human mutation, 2008-01, Vol.29 (1), p.14-21

2008

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Increased Prevalence of Thyroid Autoimmunity and Hypothyroidism in Patients with Glycogen Storage Disease Type I

The Journal of pediatrics, 2007-03, Vol.150 (3), p.300-305.e1

2007

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Pharmacological chaperone therapy for lysosomal storage diseases

Future medicinal chemistry, 2014-06, Vol.6 (9), p.1031

2014

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A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

Cell, 1995-04, Vol.81 (1), p.15-25

1995

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Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring

European journal of pediatrics, 2004-02, Vol.163 (2), p.67-75

2004

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The contribution of the citrate pathway to oxidative stress in Down syndrome

Immunology, 2016-12, Vol.149 (4), p.423-431

2016

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Early diagnosis of Gaucher disease in pediatric patients: Proposal for a diagnostic algorithm

Pediatric blood & cancer, 2014-11, Vol.61 (11), p.1905-1909

2014

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Lysosomal Storage Diseases: From Pathophysiology to Therapy

Pharmacological Chaperone Therapy for Lysosomal Storage Diseases

Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function

Pompe disease: from new views on pathophysiology to innovative therapeutic strategies

Therapeutic goals in the treatment of Gaucher disease

Homocysteine lowering by folate-rich diet or pharmacological supplementations in subjects with moderate hyperhomocysteinemia

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

Progression of Renal Damage in Glycogen Storage Disease Type I Is Associated to Hyperlipidemia: A Multicenter Prospective Italian Study

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down syndrome

Respiratory manifestations in patients with inherited metabolic diseases

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment: Consensus statements

Diagnosis and Management of Lysosomal Storage Disorders. Three Key Words: Early, Multidisciplinary, and Network

Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance

Genotype/phenotype correlation in glycogen storage disease type 1b : a multicentre study and review of the literature

The Growth Hormone-Insulin-like Growth Factor Axis in Glycogen Storage Disease Type 1: Evidence of Different Growth Patterns and Insulin-like Growth Factor Levels in Patients with Glycogen Storage Disease Type 1a and 1b

The Role of Iron Toxicity in Oxidative Stress-induced Cellular Degeneration in Down Syndrome: Protective Effects of Phenolic Antioxidants

Impact in Italy of research in pediatrics

Lysinuric protein intolerance: update and extended mutation analysis of theSLC7A7 gene

Increased Prevalence of Thyroid Autoimmunity and Hypothyroidism in Patients with Glycogen Storage Disease Type I

Pharmacological chaperone therapy for lysosomal storage diseases

A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring

The contribution of the citrate pathway to oxidative stress in Down syndrome

Early diagnosis of Gaucher disease in pediatric patients: Proposal for a diagnostic algorithm

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