E. Zammarchi

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Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency

A. Ballabio, M. Cosma, G. Uziel, 2004, Human mutation.

Food‐additive intolerance and its correlation with atopy in children with recurrent or intermittent urticaria‐angioedema

E. Zammarchi, L. Galli, M. Martino, 1992 .

The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.

A. Drousiotou, E. Zammarchi, A. Morrone, 2005, Genetic testing.

Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient

J. Cunningham, E. Zammarchi, A. Morrone, 2003, Human Genetics.

Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia.

L. Filippi, E. Zammarchi, M. Donati, 1996, Metabolism: clinical and experimental.

Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests

B. Casetta, E. Zammarchi, M. Donati, 2008, Journal of Inherited Metabolic Disease.

Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1‐gangliosidosis

H. Galjaard, W. Kleijer, E. Zammarchi, 1994, Human mutation.

Role of β‐galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1‐gangliosidosis

D. Nosi, A. Federico, V. Kimonis, 2005, Human mutation.

Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

E. Zammarchi, M. Donati, A. Morrone, 2005, The American journal of pathology.

GM1 gangliosidosis: molecular analysis of nine patients and development of an RT‐PCR assay for GLB1 gene expression profiling

M. Filocamo, W. Wuyts, W. Kleijer, 2007, Human mutation.

Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.

R. Guerrini, G. la Marca, E. Zammarchi, 2009, Journal of Pharmaceutical and Biomedical Analysis.

The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program.

R. Guerrini, G. la Marca, E. Zammarchi, 2009, Rapid communications in mass spectrometry : RCM.

The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs.

G. la Marca, M. Innocenti, E. Zammarchi, 2008, Rapid communications in mass spectrometry : RCM.

Glucose 6-phosphate transport in fibroblast microsomes from glycogen storage disease type 1b patients: evidence for multiple glucose 6-phosphate transport systems.

G. Bánhegyi, P. Marcolongo, A. Benedetti, 2001, The Biochemical journal.

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

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

Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samples.

B. Casetta, G. la Marca, M. Innocenti, 2006, Journal of mass spectrometry : JMS.

The synergistic activity of thyroid transcription factor 1 and Pax 8 relies on the promoter/enhancer interplay.

P. Natali, E. Zammarchi, D. Civitareale, 2002, Molecular endocrinology.

Low-dose folic acid supplementation reduces plasma levels of the cardiovascular risk factor homocysteine in postmenopausal women.

G. Morgante, V. de Leo, C. Setacci, 2000, American journal of obstetrics and gynecology.

Role for p300 in Pax 8 Induction of Thyroperoxidase Gene Expression*

E. Zammarchi, D. Civitareale, S. Miccadei, 2000, The Journal of Biological Chemistry.

Asymptomatic dystrophinopathy.

E. Hoffman, P. Scacheri, E. Zammarchi, 1997, American journal of medical genetics.

New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor.

E. Zammarchi, M. Donati, A. Morrone, 2004, Molecular genetics and metabolism.

Corrigendum: Molecular and biochemical analysis of protective protein/cathepsin A mutations: Correlation with clinical severity in galactosialidosis (Human Molecular Genetics (1996) 5 (1977-1987))

R. Rottier, R. Willemsen, G. Andria, 1997 .

Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.

R. Rottier, R. Willemsen, G. Andria, 1996, Human molecular genetics.

Clinical utility of non invasive methods in the evaluation of scleroderma lung in pediatric age.

M. Matucci-Cerinic, A. Pignone, E. Zammarchi, 1992, Scandinavian journal of rheumatology.

The preventive effect and duration of action of two doses of inhaled furosemide on exercise-induced asthma in children.

E. Zammarchi, E. Novembre, A. Vierucci, 1995, The Journal of allergy and clinical immunology.

Dopamine infusion and hypothyroxinaemia in very low birth weight preterm infants

M. Tronchin, L. Filippi, C. Dani, 2003, European Journal of Pediatrics.

Functional studies of new GLA gene mutations leading to conformational Fabry disease.

S. Feriozzi, R. Guerrini, L. Carraresi, 2010, Biochimica et biophysica acta.

New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry.

B. Casetta, R. Guerrini, G. la Marca, 2009, Analytical chemistry.

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease

R. Mignani, M. Filocamo, R. Guerrini, 2008, European Journal of Human Genetics.

Pathogenic Mechanism, Prophylaxis, and Therapy of Symptomatic Acidosis Induced by Acetazolamide

M. Tronchin, L. Filippi, E. Zammarchi, 2002, Journal of Investigative Medicine.

Multiple carboxylase deficiency due to deficiency of biotinidase.

W. Nyhan, B. Zielińska, E. Zammarchi, 1986, Journal of neurogenetics.

Electromyographic Alterations in Hyperphenylalaninemia due to Dihydropteridine Reductase Deficiency

E. Zammarchi, M. Donati, E. Pasquini, 1997, Journal of child neurology.

Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry.

G. la Marca, M. Innocenti, E. Zammarchi, 2007, Clinical chemistry.

[Osteomyelitis caused by atypical mycobacteria in multiple colonies].

E. Zammarchi, M. Donati, P. Bartolini, 1987, La Pediatria medica e chirurgica : Medical and surgical pediatrics.

Barth syndrome presenting with acute metabolic decompensation in the neonatal period

D. Toniolo, B. Garavaglia, E. Zammarchi, 2006, Journal of Inherited Metabolic Disease.

Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening.

B. Casetta, G. la Marca, E. Zammarchi, 2006, Journal of mass spectrometry : JMS.

Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry.

G. la Marca, E. Zammarchi, M. Donati, 2005, Rapid communications in mass spectrometry : RCM.

Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient.

G. Donzelli, E. Zammarchi, M. Donati, 1996, American journal of medical genetics.

Hepatitis C virus antibodies in a long-term follow-up of beta-thalassaemic children with acute and chronic non-A non-B hepatitis

E. Zammarchi, C. Azzari, A. Vierucci, 1992, European Journal of Pediatrics.

Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency.

L. Filippi, E. Zammarchi, M. Donati, 1996, Journal of pediatric gastroenterology and nutrition.

Prenatal diagnosis by minisatellite analysis in italian families with phenylketonuria

P. Bosco, I. Dianzani, V. Romano, 1994, Prenatal diagnosis.

Structure and mutation analysis of the glycogen storage disease type 1b gene

P. Marcolongo, A. Benedetti, G. Parenti, 1998, FEBS letters.

Unusual presentation of the immotile cilia syndrome in two children

E. Zammarchi, M. Pignotti, A. Cama, 1993, Acta paediatrica.

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.

Rapid determination of orotic acid in urine by a fast liquid chromatography/tandem mass spectrometric method.

B. Casetta, G. la Marca, E. Zammarchi, 2003, Rapid communications in mass spectrometry : RCM.

Mother‐to‐infant transmission of hepatitis C virus

E. Zammarchi, E. Novembre, C. Azzari, 1995, Italian journal of gastroenterology and hepatology.

Transient neonatal nonketotic hyperglycinemia: a 13-year follow-up.

E. Zammarchi, M. Donati, F. Ciani, 1995, Neuropediatrics.

Prolonged exclusive breast-feeding from vegan mother causing an acute onset of isolated methylmalonic aciduria due to a mild mutase deficiency.

E. Zammarchi, M. Donati, G. Poggi, 2000, Clinical nutrition.

First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency

G. la Marca, E. Zammarchi, M. Donati, 2005, Prenatal diagnosis.

Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.

A. Boneh, E. Zammarchi, M. Donati, 2002, American journal of medical genetics.

Familial infantile myasthenia: a neuromuscular cause of respiratory failure

E. Zammarchi, M. Donati, A. Sarti, 1994, Child's Nervous System.

MELAS: Clinical features, biochemistry, and molecular genetics

S. Dimauro, E. Schon, A. Martinuzzi, 1992, Annals of neurology.

Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis.

W. Arts, A. Covanis, E. Zammarchi, 2000, Human molecular genetics.

Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase*

I. Nishino, J. A. Oliver, A. Andreu, 2002, The Journal of Biological Chemistry.

The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient.

R. Guerrini, E. Zammarchi, M. Donati, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

O. Gabrielli, S. Feriozzi, E. Zammarchi, 2003, Journal of medical genetics.

Mother-to-infant transmission of hepatitis C virus.

E. Zammarchi, E. Novembre, C. Azzari, 2006, Acta paediatrica.

Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.

C. Stanley, B. Y. Hsu, M. Poncz, 1998, The New England journal of medicine.

Diagnosis of Fructose-1,6-Bisphosphatase Deficiency Using Cultured Lymphocyte Fraction: A Secure and Noninvasive Alternative to Liver Biopsy

E. Zammarchi, M. Mayumi, Y. Kikawa, 2002, Journal of Inherited Metabolic Disease.

Different genotypes in a large Italian family with recurrent hereditary fructose intolerance

R. Guerrini, E. Zammarchi, M. Donati, 2008, European journal of gastroenterology & hepatology.

GALNS gene expression pro ﬁ ling in Morquio A patients' ﬁ broblasts

G. Sersale, L. Carraresi, E. Zammarchi, 2008 .

Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16

G. la Marca, E. Zammarchi, M. Donati, 2007, Annals of human genetics.

Different neurologic outcomes in two patients with neonatal hyperinsulinemic hypoglycemia

L. Filippi, E. Zammarchi, M. Donati, 1996, Child's Nervous System.

Severe prognosis in a large family with hypokalemic periodic paralysis

E. Zammarchi, M. Donati, A. Morrone, 2003, Muscle & nerve.

Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients

S. Grossi, M. Filocamo, R. Guerrini, 2009, Journal of Neurology.

[Clinical and physiopathological significance of pneumatocele in pulmonary pathology in children].

E. Zammarchi, E. Novembre, A. Cianferoni, 1996, La Pediatria medica e chirurgica : Medical and surgical pediatrics.

Self-mutilation in a patient with mucolipidosis III.

E. Zammarchi, M. Donati, E. Pasquini, 1994, Pediatric neurology.

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

E. Haan, A. Green, S. Bione, 1997, American journal of 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.

Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia.

N. Blau, E. Zammarchi, M. Donati, 2002, Molecular genetics and metabolism.

GALNS gene expression profiling in Morquio A patients' fibroblasts.

R. Guerrini, G. Sersale, L. Carraresi, 2008, Clinica chimica acta; international journal of clinical chemistry.

Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene

I. Chiarelli, B. Porfirio, E. Zammarchi, 2000, Journal of medical genetics.

[Hyperglycinemia in clinical-laboratory practice].

E. Zammarchi, M. Donati, E. Pasquini, 1997, La Pediatria medica e chirurgica : Medical and surgical pediatrics.

Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.

R. Guerrini, G. la Marca, E. Zammarchi, 2011, JIMD reports.

Four novel mutations in patients from the Middle East with the infantile form of GM1‐gangliosidosis

A. Drousiotou, E. Zammarchi, A. Morrone, 2004, Human mutation.

RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.

E. Hoffman, C. Angelini, E. Zammarchi, 1997, The Journal of clinical investigation.

Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions

E. Zammarchi, M. Donati, A. Morrone, 2003, Human mutation.

Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies

E. Zammarchi, M. Donati, A. Morrone, 2005, Journal of Inherited Metabolic Disease.

Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome.

E. Zammarchi, M. Donati, V. Shih, 1997, The Journal of pediatrics.

Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: Identification of novel mutations

E. Zammarchi, A. Morrone, G. Biasucci, 2000, Human mutation.

The De Novo Q167K Mutation in the POU1F1 Gene Leads to Combined Pituitary Hormone Deficiency in an Italian Patient

E. Zammarchi, M. Donati, A. Morrone, 2003, Pediatric Research.

Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile.

A. Drousiotou, E. Zammarchi, A. Morrone, 2005, Human Genetics.

Free tryptophan decrease in jaundiced newborn infants during phototherapy.

S. La Rosa, E. Zammarchi, P. Bartolini, 1989, Biology of the neonate.

cblC disease: case report and monitoring of a pregnancy at risk by chorionic villus sampling.

E. Zammarchi, D. Rosenblatt, E. Pasquini, 1990, Clinical and investigative medicine. Medecine clinique et experimentale.

Hypoxanthine-guanine phosphoribosyltransferase deficiency and erythrocyte synthesis of pyridine coenzymes.

V. Micheli, S. Sestini, E. Zammarchi, 1999, Life sciences.

Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS.

B. Casetta, G. la Marca, E. Zammarchi, 2006, Journal of mass spectrometry : JMS.

Genotype–phenotype correlation in dihydropteridine reductase deficiency

I. Dianzani, N. Blau, T. Coşkun, 2000, Journal of Inherited Metabolic Disease.

Gitelman Disease Associated with Growth Hormone Deficiency, Disturbances in Vasopressin Secretion and Empty Sella: A New Hereditary Renal Tubular-Pituitary Syndrome?

G. Casari, A. Bettinelli, S. Ciarmatori, 1999, Pediatric Research.

Fructose-1,6-Diphosphatase Deficiency Misdiagnosed as Reye Syndrome

E. Zammarchi, M. Donati, E. Pasquini, 1995, Clinical pediatrics.

Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria

G. la Marca, E. Zammarchi, A. Morrone, 2005, Clinical Genetics.

Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion

E. Lamantea, B. Garavaglia, E. Zammarchi, 2000, Journal of Inherited Metabolic Disease.

Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry.

G. la Marca, E. Zammarchi, M. Donati, 2003, Rapid communications in mass spectrometry : RCM.

Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.

G. Parenti, P. Strisciuglio, E. Zammarchi, 2002, Molecular genetics and metabolism.

Immotile cilia syndrome associated with hydrocephalus and precocious puberty: a case report.

E. Zammarchi, M. Donati, M. Gattorno, 1993, European journal of pediatric surgery.

3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.

M. Cappellini, E. Zammarchi, M. Donati, 2001, Molecular genetics and metabolism.

Presentation of the data of the Italian registry for oculocutaneous tyrosinaemia

N. Balato, M. Rocco, P. Borgogni, 1986, Journal of Inherited Metabolic Disease.

Acute onset of X-linked adrenoleukodystrophy mimicking encephalitis

E. Zammarchi, M. Donati, F. Tucci, 1994, Brain & development (Tokyo. 1979).

Erythrocyte UMP Synthetase Activity

V. Micheli, E. Zammarchi, G. Jacomelli, 1998 .

Failure of Early Dextromethorphan and Sodium Benzoate Therapy in an Infant with Nonketotic Hyperglycinemia

P. Fiorini, E. Zammarchi, M. Donati, 1994, Neuropediatrics.

Enzyme activities leading to NAD synthesis in the erythrocytes of HPRT deficient subjects.

V. Micheli, S. Sestini, E. Zammarchi, 1997, Advances in experimental medicine and biology.