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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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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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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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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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Respiratory manifestations in patients with inherited metabolic diseases

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

2013

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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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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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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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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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Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype

Epigenetics, 2011-10, Vol.6 (10), p.1242-1247

2011

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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

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

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

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

Respiratory manifestations in patients with inherited metabolic diseases

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

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

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

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

Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype

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