A. Ponzone

发表

High incidence of later-onset fabry disease revealed by newborn screening.

R. Desnick, H. Sakuraba, G. Thiagarajan, 2006, American journal of human genetics.

Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype–phenotype correlations

I. Dianzani, N. Blau, R. Cotton, 1998, Human mutation.

Dilemmas and progress in mutation detection.

I. Dianzani, R. Cotton, C. Camaschella, 1993, Trends in genetics : TIG.

Phenotypic variability, neurological outcome and genetics background of 6‐pyruvoyl‐tetrahydropterin synthase deficiency

N. Blau, A. Burlina, P. Strisciuglio, 2010, Clinical genetics.

Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency

A. Mussa, D. Concolino, F. Porta, 2009, Neurology.

Infantile ascending hereditary spastic paralysis (IAHSP)

E. Bertini, E. Valente, F. Santorelli, 2003, Neurology.

Dopamine agonists in dihydropteridine reductase deficiency.

A. Mussa, D. Concolino, F. Porta, 2012, Molecular genetics and metabolism.

Deprenyl in 6-Pyruvoyl Tetrahydropterin Synthase Deficiency

Á. Schuler, N. Blau, M. Spada, 1995 .

Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.

A. Mussa, F. Porta, M. Spada, 2010, Metabolism: clinical and experimental.

Characterization of Phenylketonuria Alleles in the Italian Population

I. Dianzani, E. Marra, S. Giannattasio, 1995, European journal of human genetics : EJHG.

Phenotyping of phenylketonuric patients by oral phenylalanine loading

P. Guldberg, I. Dianzani, F. Güttler, 1996, European Journal of Pediatrics.

HDR syndrome: A novel “de novo” mutation in GATA3 gene

R. Lala, A. Ponzone, E. Garelli, 2009, American journal of medical genetics. Part A.

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

X. Estivill, M. Gallucci, P. Gasparini, 1997, American journal of human genetics.

Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.

M. Gallucci, P. Gasparini, I. Dianzani, 1995, American journal of human genetics.

Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

M. Gallucci, P. Gasparini, G. Rizzoni, 2002, Journal of the American Society of Nephrology : JASN.

Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria

F. Porta, M. Spada, A. Ponzone, 2017, Pediatrics.

Differential diagnosis of tetrahydrobiopterin deficiency

A. Ponzone, H. Curtius, A. Niederwieser, 1985, Journal of Inherited Metabolic Disease.

Dihydropteridine reductase deficiency in man: From biology to treatment

I. Dianzani, M. Spada, A. Ponzone, 2004, Medicinal research reviews.

Dihydropteridine reductase deficiency in man: From biology to treatment

I. Dianzani, M. Spada, A. Ponzone, 2004, Medicinal research reviews.

Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.

D. Howells, I. Dianzani, R. Cotton, 1993, Journal of medical genetics.

Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia

I. Dianzani, G. Ferrero, R. Cotton, 1991, Pediatric Research.

Prenatal Diagnosis of Atypical Phenylketonuria

N. Blau, T. Coşkun, M. Giovannini, 1989, Journal of Inherited Metabolic Disease.

Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test

R. Ponzone, N. Blau, M. Spada, 1993, European Journal of Pediatrics.

Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype

I. Dianzani, N. Blau, G. Ferrero, 1990, Journal of Inherited Metabolic Disease.

Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue.

C. Heizmann, N. Blau, A. Ponzone, 1994, Clinica chimica acta; international journal of clinical chemistry.

Monitoring Treatment in Tetrahydrobiopterin Deficiency

R. Ponzone, N. Blau, M. Spada, 1991 .

Prenatal Diagnosis of Dihydropteridine Reductase Deficiency in a Twin Pregnancy

R. Ponzone, N. Blau, M. Spada, 1991 .

Genetic Heterogeneity in Five Italian Regions: Analysis of PAH Mutations and Minihaplotypes

A. Piazza, I. Dianzani, F. Calì, 2001, Human Heredity.

Genetic history of phenylketonuria mutations in Italy.

A. Piazza, I. Dianzani, E. Marra, 1994, American journal of human genetics.

[Specific immunity].

A. Ponzone, 1968, Minerva pediatrica.

Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.

I. Dianzani, R. Cotton, G. Saglio, 1991, American journal of human genetics.

Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: Influence of different phenylalanine hydroxylase mutations

I. Dianzani, M. Spada, A. Ponzone, 1998, Journal of Inherited Metabolic Disease.

Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.

I. Dianzani, R. Cotton, G. Saglio, 1993, Journal of medical genetics.

Impact of Neonatal Protein Metabolism and Nutrition on Screening for Phenylketonuria

A. Mussa, F. Porta, M. Spada, 2008, Journal of pediatric gastroenterology and nutrition.

Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria

F. Porta, M. Spada, A. Ponzone, 2020, Journal of pediatric endocrinology & metabolism : JPEM.

Neurotransmitter therapy and diet in malignant phenylketonuria

A. Ponzone, O. Guardamagna, A. Niederwieser, 2004, European Journal of Pediatrics.

Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity

I. Dianzani, S. Giannattasio, P. Knappskog, 1995, Human mutation.

Derangement of pyruvate dehydrogenase activity in circulating lymphocytes of a newborn with fetal alcohol syndrome

F. Cerutti, M. Mostert, I. Rabbone, 1996, Acta paediatrica.

Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency.

F. Porta, M. Spada, A. Ponzone, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Tetrahydrobiopterin and mild phenylketonuria.

M. Spada, A. Ponzone, A. Peduto, 2003, The New England journal of medicine.

SALBUTAMOL AND PERTUSSIS

A. Ponzone, D. Pavesio, 1977, The Lancet.

Newborn feeding and screening for phenylketonuria

R. Ponzone, G. Ferrero, M. Spada, 1999, Acta paediatrica.

Prenatal diagnosis by minisatellite analysis in italian families with phenylketonuria

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

Prenatal diagnosis in primary hyperphenylalaninemias

I. Dianzani, R. Ponzone, N. Blau, 1993 .

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.

M. Baumgartner, Á. Schuler, N. Blau, 2008, Molecular genetics and metabolism.

Neonatal phenylalanine wash-out in phenylketonuria

F. Porta, M. Spada, A. Ponzone, 2020, Metabolic Brain Disease.

Maple syrup urine disease (MSUD): Screening for known mutations in Italian patients

G. Diamond, E. Rappaport, P. Fortina, 1994, Journal of Inherited Metabolic Disease.

Phenylalanine and tyrosine metabolism in DNAJC12 deficiency: A comparison between inherited hyperphenylalaninemias and healthy subjects.

F. Porta, M. Spada, A. Ponzone, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes.

C. Heizmann, R. Ponzone, N. Blau, 1993, Clinica chimica acta; international journal of clinical chemistry.

Fate of peripherally administered tetrahydrobiopterin in congenital tetrahydrobiopterin deficiency

A. Ponzone, O. Guardamagna, S. Ferraris, 1987 .

Prolonged exclusive breast feeding and hereditary as determinants in infantile atopy.

A. Ponzone, 1987, Archives of disease in childhood.

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

X. Estivill, D. Torrents, G. Borsani, 1999, Nature Genetics.

Neonatal screening for biotinidase deficiency: A 30-year single center experience

F. Porta, M. Spada, S. Pagliardini, 2017, Molecular genetics and metabolism reports.

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe.

R. Ponzone, N. Gregersen, T. Deufel, 1993, Human heredity.

Newborn screening for galactosemia: a 30-year single center experience

Marco Spada, F. Porta, M. Spada, 2015, World Journal of Pediatrics.

Thanatophoric dwarfism.

A. Ponzone, C. Fabris, P. Franceschini, 1970, American journal of diseases of children.

Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein

R. Cotton, I. Jennings, A. Ponzone, 1986, Journal of Inherited Metabolic Disease.

Two mutations of dihydropteridine reductase deficiency.

R. Cotton, R. Cotton, A. Ponzone, 1988, Archives of disease in childhood.

SEX CHROMOSOME ANOMALIES DETECTION AND FLUORESCENCE

A. Ponzone, C. Fabris, P. Franceschini, 1973, Acta paediatrica Scandinavica.

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

P. Guldberg, I. Dianzani, V. Romano, 1998, American journal of human genetics.

[RESEARCH ON THE IRON-BINDING CAPACITY OF THE PROTEINS OF HUMAN MILK].

A. Ponzone, P. Nicola, S. Baratono, 1964, Minerva pediatrica.

Polymorphism in human casein.

G. Voglino, A. Ponzone, 1972, Nature: New biology.

Characteristics of ferritins in human milk secretions: similarities to serum and tissue isoferritins.

P. Arosio, S. Levi, A. Ponzone, 1986, Clinica chimica acta; international journal of clinical chemistry.

[Neonatal hyperbilirubinemia and response of lymphocytes to phytohemagglutinin].

A. Ponzone, C. de Sanctis, C. Fabris, 1968, Minerva pediatrica.

Unusual blast proliferation and kinetics in acute lymphoblastic leukaemia.

A. Pileri, A. Ponzone, F. Gavosto, 1969, European journal of cancer.

Different blast kinetics in acute myeloblastic and lymphoblastic leukaemia. A hypothesis of different stem cell origni.

A. Pileri, A. Ponzone, F. Gavosto, 1969, Acta haematologica.

Dipylidium caninum in an infant

A. Ponzone, S. Ferraris, E. Reverso, 1993, European Journal of Pediatrics.

Breastfeeding or Oral Sucrose Solution in Term Neonates Receiving Heel Lance: A Randomized, Controlled Trial

M. Ceccarelli, A. Ponzone, Luigi Codipietro, 2008, Pediatrics.

CELLULAR AND HUMORAL FACTORS INVOLVEMENT IN THE ENHANCED NBT REDUCTION BY NEUTROPHIL LEUCOCYTES OF NEWBORN INFANTS

A. Ponzone, P. Tovo, P. Tovo, 1977, Acta paediatrica Scandinavica.

NBT test in thalassemia.

R. Miniero, A. Ponzone, P. Tovo, 1977, The Journal of pediatrics.

Goldenhar anomaly in one of triplets derived from in vitro fertilization.

A. Ponzone, M. Silengo, S. Ferraris, 1999, American journal of medical genetics.

[Therapy of diabetes insipidus with chlorpropamide].

A. Ponzone, C. de Sanctis, F. Mussa, 1974, Minerva pediatrica.

Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin

N. Blau, G. Ferrero, M. Spada, 1996, Journal of Inherited Metabolic Disease.

Genealogy of breastfeeding

A. Mussa, F. Porta, M. Spada, 2015, European Journal of Pediatrics.

A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia

R. Santer, M. Spada, A. Ponzone, 2004, Journal of Inherited Metabolic Disease.

Cardiac response to enzyme-replacement therapy in Gaucher's disease.

M. Spada, A. Ponzone, E. Chiappa, 1998, The New England journal of medicine.

Genotype–phenotype correlation in dihydropteridine reductase deficiency

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

Different Strategies In the Treatment of Dihydropteridine Reductase Deficiency

N. Blau, G. Ferrero, M. Spada, 1996 .

Tetrahydrobiopterin and inherited hyperphenylalaninemias.

N. Blau, M. Spada, A. Ponzone, 1996, The Turkish journal of pediatrics.

Catalytic Activity of Tetrahydrobiopterin in Dihydropteridine Reductase Deficiency and Indications for Treatment

I. Dianzani, R. Ponzone, G. Ferrero, 1993, Pediatric Research.

Screening and treatment of tetrahydrobiopterin deficiency

N. Blau, G. Ferrero, A. Ponzone, 1990 .

Differential entrance of tetrahydrobiopterin into the brain of patients with 6-pyruvoil tetrahydropterin synthase deficiency

N. Blau, A. Ponzone, O. Guardamagna, 1989 .

Atypical phenylketonuria with “dihydrobiopterin synthetase” deficiency: Absence of phosphate-eliminating enzyme activity demonstrated in liver

A. Ponzone, H. Curtius, F. Rey, 1985, European Journal of Pediatrics.

Catechol-O-Methyltransferase Inhibition in the Treatment of Tetrahydrobiopterin Deficiency

M. Spada, M. Valenzise, A. Ponzone, 2002 .

Bethanechol versus antiacids in the treatment of gastroesophageal reflux.

A. Ponzone, O. Guardamagna, N. Ansaldi, 1985, Helvetica paediatrica acta.

Analgesic Techniques in Minor Painful Procedures in Neonatal Units: A Survey in Northern Italy

E. Bailo, A. Ponzone, M. Nangeroni, 2011, Pain practice : the official journal of World Institute of Pain.

Short prolactin profile for monitoring treatment in BH4 deficiency.

F. Porta, M. Spada, A. Ponzone, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency.

F. Porta, M. Spada, A. Ponzone, 2016, The Journal of pediatrics.

Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests.

D. Rabier, P. Parvy, J. Saudubray, 1994, The Journal of pediatrics.

Mamary Control of Iron Secretion in Milk a

P. Arosio, A. Ponzone, R. Ferrero, 1986 .

Ferritin in Human Milk

P. Arosio, A. Ponzone, R. Ferrero, 1984, Acta paediatrica Scandinavica.

Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype–phenotype correlations

I. Dianzani, N. Blau, A. Brusco, 1998, Human mutation.

Identification of mutations causing 6‐pyruvoyl‐tetrahydropterin synthase deficiency in four Italian families

C. Heizmann, N. Blau, B. Thöny, 1997, Human mutation.