F. Furlan

发表

High level of oxysterols in neonatal cholestasis: a pitfall in analysis of biochemical markers for Niemann-Pick type C disease

L. Giordano, M. Plebani, A. Burlina, 2016, Clinical chemistry and laboratory medicine.

Reconstitution of lymphocyte subpopulations in children with inherited metabolic storage diseases after haematopoietic cell transplantation

G. Uziel, G. Masera, A. Balduzzi, 2005, British journal of haematology.

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.

Incidence of secondary Helicobacter pylori resistance to antibiotics in treatment failures after 1-week proton pump inhibitor-based triple therapies: a prospective study.

A. Pilotto, F. Di Mario, G. Leandro, 2000, Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.

Epilepsia Partialis Continua and Generalized Nonconvulsive Status Epilepticus during the Course of Argininemia: A Report on Two Cases

D. Grioni, R. Parini, F. Furlan, 2013, Neuropediatrics.

Cytotoxin-associated gene A-positive Helicobacter pylori infection in the elderly. Association with gastric atrophy and intestinal metaplasia.

A. Pilotto, S. Meli, F. Di Mario, 1998, Journal of clinical gastroenterology.

Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.

F. Zoulim, T. Fontanges, F. Gottrand, 2014, Journal of hepatology.

Hepatic steatosis and fibrosis despite metabolic differences in congenital hypo-cholesterolemia due to homozygous MTTP and APOB mutations

Alain, Lachaux, F. Zoulim, 2014 .

Intrafamilial phenotypic variability in four families with Anderson‐Fabry disease

F. Pieruzzi, P. Strisciuglio, D. Concolino, 2014, Clinical genetics.

Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson–Fabry disease: testing the effects with the Mainz Severity Score Index

S. Feriozzi, P. Strisciuglio, D. Concolino, 2008, Clinical genetics.

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

A. Angeloni, I. Bucci, C. Dionisi-Vici, 2022, International journal of neonatal screening.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

M. Baumgartner, E. Rodrigues, C. Ortez, 2015, Journal of Inherited Metabolic Disease.

Unexplained hypoglycemia during continuous nocturnal gastric drip-feeding in a patient with glycogen storage disease type ia: is it a dumping-like syndrome?

R. Parini, F. Furlan, A. Brambilla, 2013, JIMD reports.

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α‐L‐iduronidase (IDUA) alleles

D. Cooper, M. Mort, O. Gabrielli, 2011, Human mutation.

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy

A. Ficcadenti, R. Manara, G. Polonara, 2011, Journal of Inherited Metabolic Disease.

Clinical, biochemical and molecular characterization of prosaposin deficiency

M. Tartaglia, M. Motta, V. Nigro, 2016, Clinical genetics.

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.

M. Zeviani, L. Notarangelo, G. Uziel, 2009, Journal of hepatology.

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

Marni J. Falk, T. Wieland, T. Meitinger, 2013, American journal of human genetics.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Epilepsy and Argininosuccinic Aciduria

P. Vizziello, G. Marzocchi, D. Grioni, 2011, Neuropediatrics.

Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.

A. Morgan, P. Gasparini, L. Giordano, 2013, Gene.

Muscle MRI of classic infantile pompe patients: Fatty substitution and edema‐like changes

A. Pichiecchio, G. Colafati, M. Rocco, 2017, Muscle & nerve.

Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts

B. Bembi, S. Regis, M. Filocamo, 2006, Journal of Molecular Medicine.

D. Tregouet, P. Morange, A. Gozzini, 2021, Clinical epigenetics.

The Fanconi–Bickel Syndrome: a Case of Neonatal Onset

A. Bettinelli, R. Parini, F. Furlan, 2004, Journal of Perinatology.

Bilateral nuclear cataracts as the first neonatal sign of Fanconi–Bickel syndrome

G. Sersale, R. Santer, R. Parini, 2006, Journal of Inherited Metabolic Disease.

PSY36 Economic Evaluation of Pegvisomant for Active Acromegaly Patients who Failed Available Therapies in Brazil – Public Health Care System Perspective

F. Furlan, R. Fujii, R. Fernandes, 2012 .

Noninvasive diagnosis of Helicobacter pylori infection in older subjects: comparison of the 13C-urea breath test with serology.

F. Bazzoli, A. Pilotto, F. Di Mario, 2000, The journals of gerontology. Series A, Biological sciences and medical sciences.

Purity and Stability of Online-Prepared Hemodiafiltration Fluid after Storage

C. Ronco, V. Corradi, D. Cruz, 2013, Blood Purification.

Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?

S. Grünert, F. Porta, M. Spada, 2021, Journal of inherited metabolic disease.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Pancreatic hyperamylasemia during acute gastroenteritis: incidence and clinical relevance

G. Tositti, M. Franzetti, F. Furlan, 2001, BMC infectious diseases.

Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement

A. Pichiecchio, G. Colafati, M. Paoletti, 2020, Frontiers in Neurology.

Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect.

B. Merinero, M. Ugarte, D. Codazzi, 2013, JIMD reports.

Intravenous enzyme replacement therapy: hospital vs home.

R. Parini, F. Furlan, S. Di Mauro, 2010, British journal of nursing.

In vitro activity of rifabutin against strains of Helicobacter pylori resistant to metronidazole and clarithromycin

A. Pilotto, M. Franceschi, F. Furlan, 2000, American Journal of Gastroenterology.

Staphylococcus caprae meningitis following intraspinal device infection.

F. Furlan, A. Sefton, P. Benedetti, 2008, Journal of medical microbiology.

Case Report Staphylococcus caprae meningitis following intraspinal device infection

F. Furlan, A. Sefton, P. Benedetti, 2008 .

A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy

S. Salani, G. Comi, S. Corti, 2023, European Journal of Human Genetics.

The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin

L. Giordano, J. Zschocke, A. Burlina, 2016, European Journal of Pediatrics.