R. Gatti

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An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity

S. Regis, F. Corsolini, M. Filocamo, 1999, European Journal of Human Genetics.

Jagged‐1 mutation analysis in Italian Alagille syndrome patients

M. Uda, A. Cao, S. Musumeci, 1999, Human mutation.

Human α-fucosidase: Single residual enzymatic form in fucosidosis

G. Romeo, A. Maresca, R. Gatti, 1976 .

Efficacy of ACE‐inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study

G. Andria, D. Melis, A. Burlina, 2005, Clinical endocrinology.

Guanidino Compound Analysis as a Complementary Diagnostic Parameter for Hyperargininemia: Follow-Up of Guanidino Compound Levels during Therapy

P. Deyn, S. Cederbaum, A. Lowenthal, 1990, Pediatric Research.

The pathobiochemistry of uremia and hyperargininemia further demonstrates a metabolic relationship between urea and guanidinosuccinic acid.

P. D. De Deyn, S. Cederbaum, M. D. de Broe, 1992, Metabolism: clinical and experimental.

IgA antiendomysium antibodies in human umbilical cord sections as a screening test in relatives of patients with celiac disease

R. Gatti, G. Pesce, M. Bagnasco, 1997, Allergy.

Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings.

R. Biancheri, E. Zammarchi, A. Rossi, 2001, AJNR. American journal of neuroradiology.

Detection of carriers and prenatal diagnosis for fucosidosis in Calabria

M. Filocamo, G. Romeo, G. Costantino, 1979, Human Genetics.

Gene dosage of the spermidine/spermine N1-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)

R. Ravazzolo, G. Gimelli, L. Alhonen, 2002, Human Genetics.

Fucosidosis: clinical, biochemical, immunologic, and genetic studies in two new cases.

R. Gatti, C. Borrone, P. Durand, 1974, The Journal of pediatrics.

Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency

J. Martín, B. Berra, R. Gatti, 1982, Journal of Inherited Metabolic Disease.

Expression studies of two novel in CIS‐mutations identified in an intermediate case of Hunter syndrome

S. Regis, F. Corsolini, M. Filocamo, 2003, American journal of medical genetics. Part A.

Infantile sialic acid storage disease: biochemical studies.

G. Mancini, B. Bembi, R. Gornati, 1995, American journal of medical genetics.

Mutations in the glucose‐6‐phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c

P. Marcolongo, A. Benedetti, D. Melis, 1999, FEBS letters.

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

G. Andria, P. Marcolongo, A. Benedetti, 2005, European Journal of Pediatrics.

GENETIC HETEROGENEITY IN FUCOSIDOSIS

R. Gatti, C. Borrone, P. Durand, 1973 .

Report on two patients with Costello syndrome and sialuria.

M. Di Rocco, A. Barabino, P. Picco, 1993, American journal of medical genetics.

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients

S. Regis, F. Corsolini, M. Filocamo, 2002, Human mutation.

Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases.

R. Biancheri, E. Veneselli, A. Rossi, 2001, Neuropediatrics.

Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency

E. Lamantea, P. Vizziello, B. Garavaglia, 1998, European Journal of Pediatrics.

Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells

M. Filocamo, R. Gatti, P. di Natale, 1985, Prenatal diagnosis.

Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter-->q24::q21.32-->qter) and random X inactivation.

B. Bardoni, O. Zuffardi, G. Arrigo, 1997, American journal of medical genetics.

Fucosidosis revisited: a review of 77 patients.

J. Darby, G. Romeo, P. Willems, 1991, American journal of medical genetics.

I-cell disease and pseudo-Hurler polydystrophy

R. Gatti, C. Borrone, P. Durand, 1982 .

A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease.

A. Salviati, P. Pignatti, N. Rizzuto, 2001, Molecular and cellular probes.

Splicing mutation causes infantile Sandhoff disease.

A. Salviati, P. Pignatti, N. Rizzuto, 1998, American journal of medical genetics.

Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

N. Cross, G. Andria, P. Strisciuglio, 1991, Journal of medical genetics.

Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases

M. Filocamo, R. Gatti, C. Borrone, 1985, Prenatal diagnosis.

Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients

A. Tessitore, M. Filocamo, Carmela Di Domenico, 2000, Human Genetics.

Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia

S. Regis, F. Caroli, P. Gandullia, 1999, Journal of Inherited Metabolic Disease.

A rare G6490 → substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients

B. Bembi, F. Corsolini, M. Filocamo, 1995, Clinical genetics.

Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL

N. Bresolin, G. Scarlato, D. Melis, 2002, Human mutation.

Prenatal diagnosis of Pelizaeus‐Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR

S. Regis, F. Corsolini, M. Filocamo, 2001, Prenatal diagnosis.

Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate‐2‐sulfatase (IDS) gene

F. Corsolini, M. Filocamo, R. Cusano, 2001, Human mutation.

The iduronate sulfatase gene: isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome.

D. Schlessinger, M. D'urso, A. Ballabio, 1992, Genomics.

Prenatal diagnosis of hunter syndrome using chorionic villi

R. Gatti, P. di Natale, N. Pannone, 1986, Prenatal diagnosis.

Genome search in celiac disease.

S. Virgiliis, C. Dib, M. Babron, 1998, American journal of human genetics.

Heterogeneity of mRNA expression in Italian fucosidosis patients

G. Romeo, S. Guazzi, J. O'brien, 1989, Human Genetics.

β‐galactosidase gene mutations affecting the lysosomal enzyme and the elastin‐binding protein in GM1‐gangliosidosis patients with cardiac involvement

E. Zammarchi, M. Donati, A. Morrone, 2000, Human mutation.

An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease

L. Roccatagliata, R. Biancheri, A. Rossi, 2002, Clinical genetics.

A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.

R. Dicioccio, M. Filocamo, P. Willems, 1994, Human molecular genetics.

Mutations in fucosidosis gene: a review.

M. Filocamo, R. Gatti, G. Tiberio, 1995, Acta geneticae medicae et gemellologiae.

FUCOSIDOSIS IN CALABRIA: FOUNDER EFFECT OR HIGH GENE FREQUENCY?

G. Romeo, R. Gatti, C. Borrone, 1977, The Lancet.

Human alpha-fucosidase. Single residual enzymatic form in fucosidosis.

G. Romeo, G. Di Matteo, A. Maresca, 1976, Biochimica et biophysica acta.

Relationship between α-L-fucosidase deficiency in plasma and α-L-fucosidase activity in leukocytes

G. Romeo, R. Gatti, S. Cavalieri, 1979, Human Genetics.

A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms

S. Regis, F. Corsolini, M. Filocamo, 1998, Human Genetics.

Severity of bone marrow involvement in patients with Gaucher's disease evaluated by scintigraphy with 99mTc-sestamibi.

A. Pierini, R. Brady, P. Erba, 2003, Journal of nuclear medicine : official publication, Society of Nuclear Medicine.

Studies on the sialidoses: properties of human leucocyte neuraminidases.

R. Gatti, M. Potier, L. Mameli, 1980, Biochimica et biophysica acta.

Sanfilippo type D disease: Clinical findings in two patients with a new variant of mucopolysaccharidosis III

K. Figura, H. Kresse, G. Sanna, 1979, European Journal of Pediatrics.

A homozygous missense arginine to histidine substitution at position 482 of the β-galactosidase in an Italian infantile GM1-gangliosidosis patient

S. Brocca, E. Gianazza, C. Danesino, 1992, Human Genetics.

Mutations among Italian mucopolysaccharidosis type I patients

H. Scott, M. Filocamo, J. Hopwood, 1997, Journal of Inherited Metabolic Disease.

Two New Nonsense mutations (Q80X; Q389X) in patients with severe hunter syndrome ( mucopolysaccharidosis type II)

R. Carrozzo, R. Gatti, Fabio Corsolini, 1996, Human mutation.

A deletion involving exons 2–4 in the iduronate‐2‐sulfatase gene of a patient with intermediate Hunter syndrome

S. Regis, F. Corsolini, M. Filocamo, 1998, Clinical genetics.

Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations

G. Uziel, M. Filocamo, S. Goldwurm, 2002, Human mutation.

Molecular Characterization Of Mutations Causing Fucosidosis in Italy

P. Willems, S. Guazzi, J. O'brien, 1988 .

Carbohydrate-deficient glycoprotein syndromes: The Italian experience

M. Carrozzi, U. Raucci, A. Burlina, 2000, Journal of Inherited Metabolic Disease.

An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient

S. Regis, M. Filocamo, G. Serra, 1995, Human Genetics.

A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient

S. Regis, M. Filocamo, R. Gatti, 1997, Clinical genetics.

Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism

U. Caruso, R. Gatti, R. Cerone, 1999, Journal of Inherited Metabolic Disease.

Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large‐scale mitochondrial DNA deletion

C. Bruno, C. Minetti, F. Santorelli, 2002, Clinical genetics.

Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy.

S. Regis, F. Corsolini, M. Filocamo, 1996, Journal of medical genetics.

Guanidino compounds in hyperargininaemia

E. Hirsch, M. Durán, S. Cederbaum, 1992 .

A novel mutation of the β‐glucocererebrosidase gene associated with neurologic manifestations in three sibs

M. Filocamo, G. Andria, L. Titomanlio, 1998 .

A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene

S. Regis, M. Filocamo, G. Parenti, 2001 .

Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling.

M. Filocamo, G. Bonuccelli, F. Giona, 2000, Blood cells, molecules & diseases.

Pregnancy and tyrosinaemia type II

R. Gatti, R. Cerone, L. Moresco, 2002, Journal of Inherited Metabolic Disease.

Deletion of exons 11–17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease

G. Finocchiaro, G. Uziel, D. Pareyson, 2000, Journal of Neurology.

Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.

A. Tessitore, M. Filocamo, R. Gatti, 2000, Human genetics.

Cherry-red spot myoclonus syndrome (type I sialidosis).

G. Guazzi, A. Federico, N. Stefano, 1991, Developmental neuroscience.

A simple detection of sialic acid storage disorders by urinary 'free' and 'total' sialic acid determinations.

R. Gatti, P. Cardo, C. Lombardo, 1985, Clinica chimica acta; international journal of clinical chemistry.

Hyperargininemia: a treatable inborn error of metabolism?

R. C. Green, A. Beaudet, E. Hirsch, 1997 .

Hyperorgininemia: a treatable inborn error of metabolism

Roth, A. Beaudet, S. Cederbaum, 1997 .

Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making.

S. Regis, F. Corsolini, M. Filocamo, 2000, Blood cells, molecules & diseases.

A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene

S. Regis, M. Filocamo, G. Parenti, 2001, Journal of medical genetics.

Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele

M. Filocamo, R. Gatti, G. Villani, 1999, Prenatal diagnosis.