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A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

Journal of neurology, 2015-01, Vol.262 (1), p.154-164

2015

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Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

Human mutation, 2006-10, Vol.27 (10), p.999-1006

2006

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Substrate reduction therapy in the infantile form of Tay-Sachs disease

Neurology, 2006-01, Vol.66 (2), p.278-280

2006

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Gaucher's disease with Parkinson's disease: clinical and pathological aspects

Neurology, 2003-07, Vol.61 (1), p.99-101

2003

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Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype

JIMD Reports, Volume 23, 2015, Vol.23, p.17-26

2015

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Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease

Human mutation, 2008-06, Vol.29 (6), p.E27-E36

2008

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Gaucher disease and bone: Laboratory and skeletal mineral density variations during a long period of enzyme replacement therapy

Journal of inherited metabolic disease, 2005-01, Vol.28 (5), p.723-732

2005

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Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2

Neurology, 2001-09, Vol.57 (5), p.906-908

2001

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Bone marker alterations in patients with type 1 Gaucher disease

Calcified tissue international, 2003-03, Vol.72 (3), p.185-189

2003

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Saccade testing in the diagnosis and treatment of type 3 Gaucher disease

Neurology, 2005-12, Vol.65 (11), p.1837-1837

2005

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Premature Birth with Complicated Perinatal Course Delaying Diagnosis of Prader-Willi Syndrome

Case reports in pediatrics, 2011-01, Vol.2011 (2011), p.1-3

2011

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Intravenous pamidronate treatment in osteogenesis imperfecta

The Journal of pediatrics, 1997-10, Vol.131 (4), p.622-625

1997

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Response of Gaucher bone disease to enzyme replacement therapy

British journal of radiology, 2002-01, Vol.75 (suppl_1), p.A25-A36

2002

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Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon

Human mutation, 2004-08, Vol.24 (2), p.186-187

2004

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Bone complications in children with Gaucher disease

British journal of radiology, 2002-01, Vol.75 (suppl_1), p.A37-A43

2002

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Short-Term Effects of Pamidronate in Patients with Gaucher's Disease and Severe Skeletal Involvement

The New England journal of medicine, 1997-09, Vol.337 (10), p.712-712

1997

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Glycolipid Analysis of Different Tissues and Cerebrospinal Fluid in Type II Gaucher Disease

Journal of inherited metabolic disease, 2002-02, Vol.25 (1), p.47-55

2002

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Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II

Journal of inherited metabolic disease, 2003-01, Vol.26 (7), p.675-681

2003

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The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

Genetics in medicine, 2010-04, Vol.12 (4), p.206-211

2010

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Mother-to-infant transmission of hepatitis C virus: Rate of infection and assessment of viral load and IgM anti-HCV as risk factors

Journal of medical virology, 2002-06, Vol.67 (2), p.137-142

2002

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Generalized arterial calcification of infancy : two siblings with prolonged survival

European journal of pediatrics, 2006-04, Vol.165 (4), p.258-263

2006

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ALP Isoenzyme Separation in Type 1 Gaucher Disease

Clinical chemistry and laboratory medicine, 2000-05, Vol.38 (5), p.479-48

2000

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Effectiveness of Adjunctive Treatment with Steroids in Reducing Short-term Mortality in a High-risk Population of Children with Bacterial Meningitis

Journal of tropical pediatrics (1980), 1995-06, Vol.41 (3), p.164-168

1995

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250 Novel Compound Heterozygous Mutations in SGLT2 Gene are Responsible for Autosomal Recessive Renal Glucosuria

Pediatric research, 2005-08, Vol.58 (2), p.397-397

2005

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Idiopathic arterial calcification of infancy: effectiveness of prostaglandin infusion for treatment of secondary hypertension refractory to conventional therapy: case report

Pediatric cardiology, 1997-01, Vol.18 (1), p.67-71

1997

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A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

Substrate reduction therapy in the infantile form of Tay-Sachs disease

Gaucher's disease with Parkinson's disease: clinical and pathological aspects

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease

Gaucher disease and bone: Laboratory and skeletal mineral density variations during a long period of enzyme replacement therapy

Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2

Bone marker alterations in patients with type 1 Gaucher disease

Saccade testing in the diagnosis and treatment of type 3 Gaucher disease

Premature Birth with Complicated Perinatal Course Delaying Diagnosis of Prader-Willi Syndrome

Intravenous pamidronate treatment in osteogenesis imperfecta

Response of Gaucher bone disease to enzyme replacement therapy

Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon

Bone complications in children with Gaucher disease

Short-Term Effects of Pamidronate in Patients with Gaucher's Disease and Severe Skeletal Involvement

Glycolipid Analysis of Different Tissues and Cerebrospinal Fluid in Type II Gaucher Disease

Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II

The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

Mother-to-infant transmission of hepatitis C virus: Rate of infection and assessment of viral load and IgM anti-HCV as risk factors

Generalized arterial calcification of infancy : two siblings with prolonged survival

ALP Isoenzyme Separation in Type 1 Gaucher Disease

Effectiveness of Adjunctive Treatment with Steroids in Reducing Short-term Mortality in a High-risk Population of Children with Bacterial Meningitis

250 Novel Compound Heterozygous Mutations in SGLT2 Gene are Responsible for Autosomal Recessive Renal Glucosuria

Idiopathic arterial calcification of infancy: effectiveness of prostaglandin infusion for treatment of secondary hypertension refractory to conventional therapy: case report

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