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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: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders

Molecular therapy, 2015-07, Vol.23 (7), p.1138-1148

2015

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Impairment of methyl cycle affects mitochondrial methyl availability and glutathione level in Down's syndrome

Molecular genetics and metabolism, 2011-03, Vol.102 (3), p.378-382

2011

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Lysinuric protein intolerance: Reviewing concepts on a multisystem disease

American journal of medical genetics. Part C, Seminars in medical genetics, 2011-02, Vol.157C (1), p.54-62

2011

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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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The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts

Molecular therapy, 2009-06, Vol.17 (6), p.964-971

2009

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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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Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives?

Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.262-262, Article 262

2020

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A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

American journal of human genetics, 2012-01, Vol.90 (1), p.161-169

2012

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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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pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase

Human mutation, 2009-12, Vol.30 (12), p.1683-1692

2009

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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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Mitochondrial DNA methylation as a next-generation biomarker and diagnostic tool

Molecular genetics and metabolism, 2013-09, Vol.110 (1-2), p.25-34

2013

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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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The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach

Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.91-94

2010

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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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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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Cystathionine β-synthase mutations in homocystinuria

Human mutation, 1999, Vol.13 (5), p.362-375

1999

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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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Hyperhomocysteinemia: Related genetic diseases and congenital defects, abnormal DNA methylation and newborn screening issues

Molecular genetics and metabolism, 2014-09, Vol.113 (1-2), p.27-33

2014

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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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Lysosomal Storage Diseases: From Pathophysiology to Therapy

Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders

Impairment of methyl cycle affects mitochondrial methyl availability and glutathione level in Down's syndrome

Lysinuric protein intolerance: Reviewing concepts on a multisystem disease

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 Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts

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

Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives?

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

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

pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase

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

Mitochondrial DNA methylation as a next-generation biomarker and diagnostic tool

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

The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach

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

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

Cystathionine β-synthase mutations in homocystinuria

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

Hyperhomocysteinemia: Related genetic diseases and congenital defects, abnormal DNA methylation and newborn screening issues

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

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