Search filters

List of works by Francesco Porta

A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency

scientific article published on 24 May 2013

Bone alterations in children and young adults with renal transplant assessed by phalangeal quantitative ultrasound

scientific article published on 01 September 2007

Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase

scientific article

Bone quantitative ultrasound in congenital and acquired childhood multiple pituitary failure

scientific article published on 9 April 2010

Breastfeeding effects on newborn screening

scientific article published on 24 March 2010

Cornea verticillata and Fabry disease

scientific article published on 13 April 2013

Determinants of thyrotropin rise in congenital hypothyroidism

scientific article published on 13 September 2011

Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency

scientific article published in August 2009

Dopamine agonists in dihydropteridine reductase deficiency

scientific article published on 25 January 2012

Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia.

scientific article published on 15 June 2015

Feeding the normal newborn: whose art is it?

scientific article published on 15 June 2013

Fracture odds and body mass index in children

scientific article published on 17 September 2014

Genealogy of breastfeeding

scientific article published on 13 August 2015

High frequency ultrasound measurement of digital dermal thickness in systemic sclerosis

scientific article

Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia

scientific article

Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria

scientific article published in May 2008

In response to van Spronsen et al (2009) phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU (J Inherit Metab Dis 32: 27-31).

scientific article published in August 2009

In vivo specific reduction of arylsulfatase B enzymatic activity in children with cystic fibrosis

scientific article published on 04 March 2008

Increased spontaneous osteoclastogenesis from peripheral blood mononuclear cells in phenylketonuria

scientific article

Later effects of metabolic control in phenylketonuria

scientific article published on 20 February 2013

Liver transplantation in severe methylmalonic acidemia: The sooner, the better

scientific article published on 09 September 2015

Lung ultrasound for the screening of interstitial lung disease in very early systemic sclerosis

scientific article published on 15 May 2012

Lysosomal enzyme activities in phenylketonuria

scientific article published on 02 February 2011

Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disorders.

scientific article published on 16 November 2012

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

scientific article published on 09 March 2015

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

scientific article published on 3 December 2007

Phalangeal quantitative ultrasound in 1,719 children and adolescents with bone disorders

scientific article published on 23 September 2011

Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study

scientific article published on 3 March 2008

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

scientific article published on 3 January 2009

Phenotyping and treatment of phenylketonuria

scientific article published on 01 February 2011

Playing competitive basketball in face of late-onset pompe disease.

scientific article published on 23 December 2014

Polyuric-polydipsic syndrome in a pediatric case of non-glucocorticoid remediable familial hyperaldosteronism

scientific article published on 11 March 2012

Prospective bone ultrasound patterns during childhood acute lymphoblastic leukemia treatment

scientific article published on 4 January 2010

Remittent hyperammonemia in congenital portosystemic shunt.

scientific article published on 18 July 2009

Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia.

scientific article

Short prolactin profile for monitoring treatment in BH4 deficiency

scientific article published on 9 February 2015

Spontaneous regression of hypertrophic cardiomyopathy in an infant with Pompe's disease

scientific article published on 11 October 2012

Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype

scientific article published on 24 October 2012

Tetrahydrobiopterin and phenylketonuria

scientific article published on 15 February 2011

The overlap between Sotos and Beckwith-Wiedemann syndromes

scientific article published on 14 April 2010

Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency

scientific article published on 14 November 2009

Paulina is supported by:

About Paulina

Help