Publications by authors named "Francesco Porta"

83Publications

Adult attention deficit hyperactivity disorder in patients with fibromyalgia syndrome: Assessment and disabilities.

J Psychiatr Res 2020 Oct 24. Epub 2020 Oct 24.

INS, Istituto di Neuroscienze, Florence, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jpsychires.2020.10.027DOI Listing
October 2020

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

Eur J Paediatr Neurol 2020 Sep 1;28:77-80. Epub 2020 Aug 1.

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2020.07.011DOI Listing
September 2020

Neonatal phenylalanine wash-out in phenylketonuria.

Metab Brain Dis 2020 10 13;35(7):1225-1229. Epub 2020 Jul 13.

Department of Pediatrics, AOU Città della Salute e della Scienza di Torino, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1007/s11011-020-00602-6DOI Listing
October 2020

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.

Lancet Diabetes Endocrinol 2020 07;8(7):594-605

Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, Netherlands. Electronic address:

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http://dx.doi.org/10.1016/S2213-8587(20)30153-4DOI Listing
July 2020

Ultrasound-Guided Interventions During the COVID-19 Pandemic-A New Challenge.

Am J Phys Med Rehabil 2020 07;99(7):580-581

Department of Physical Medicine Rheumatology and Rehabilitation Tanta University Hospitals & Faculty of Medicine, Tanta University Tanta, Egypt Department of Anaesthesia and Reanimation Sakarya University Education and Research Hospital Sakarya, Turkey Div. of Rheumatology Hospital Universitario del Tajo Madrid, Spain Department of Anaesthesia and Reanimation Hospital Universitario Mostoles Madrid, Spain Hip and Knee Replacement Department IRCCS Istituto Ortopedico Rizzoli Bologna, Italy MedCare, Pistoia, Italy Department of Physical and Rehabilitation Medicine Centro Hospitalar de Leiria Leiria, Portugal Anesthesia, Intensive Care and Pain Therapy IRCCS Istituto Ortopedico Rizzoli Bologna, Italy Division of Rheumatology Department of Clinical and Experimental Medicine University of Florence Florence, Italy.

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http://dx.doi.org/10.1097/PHM.0000000000001467DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268820PMC
July 2020

Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism.

J Pediatr Gastroenterol Nutr 2019 08;69(2):160-162

Department of Pediatrics, University of Torino.

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http://dx.doi.org/10.1097/MPG.0000000000002354DOI Listing
August 2019

Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.

J Pediatr Endocrinol Metab 2019 Feb;32(2):101-108

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1515/jpem-2018-0311DOI Listing
February 2019

Columbus' egg: a practical approach to nutritional management in maple syrup urine disease.

J Pediatr Endocrinol Metab 2019 Jan;32(1):83-84

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1515/jpem-2018-0485DOI Listing
January 2019

Early higher dosage of alglucosidase alpha in classic Pompe disease.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1343-1347

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1515/jpem-2018-0336DOI Listing
December 2018

Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care.

Eur J Paediatr Neurol 2018 Nov 18;22(6):1103-1109. Epub 2018 Aug 18.

Department of Neuroscience, Division of Neurology and Neuromuscular Diseases, Turin University Hospital, Corso Bramante 88/90, 10126, Turin, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2018.08.001DOI Listing
November 2018

Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism.

Nephrology (Carlton) 2018 Oct;23(10):957-961

Departments of Pediatrics, Dialysis and Transplantation Unit, Città della Salute e della Scienza, Regina Margherita Children's Hospital, Torino, Italy.

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http://dx.doi.org/10.1111/nep.13409DOI Listing
October 2018

Hematopoietic stem cell transplantation in Niemann-Pick disease type B monitored by chitotriosidase activity.

Pediatr Blood Cancer 2018 Feb 1;65(2). Epub 2017 Nov 1.

Paediatric Onco-Haematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Torino, Italy.

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http://dx.doi.org/10.1002/pbc.26811DOI Listing
February 2018

The waterpolo shoulder paradigm: results of ultrasound surveillance at poolside.

BMJ Open Sport Exerc Med 2017 28;3(1):e000211. Epub 2017 Jul 28.

Division of Rheumatology, Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1136/bmjsem-2016-000211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5633731PMC
July 2017

Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria.

Pediatrics 2017 Aug 5;140(2). Epub 2017 Jul 5.

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1542/peds.2016-1591DOI Listing
August 2017

Definition and Reliability Assessment of Elementary Ultrasonographic Findings in Calcium Pyrophosphate Deposition Disease: A Study by the OMERACT Calcium Pyrophosphate Deposition Disease Ultrasound Subtask Force.

J Rheumatol 2017 Nov 1;44(11):1744-1749. Epub 2017 Mar 1.

From the University of Siena, Siena; Italian Society for Rheumatology (SIR) Epidemiology Unit, Milan; University of Pisa, Pisa; Università Politecnica delle Marche, Jesi; Internal Medicine Division, San Jacopo Hospital, Pistoia; Università degli Studi di Torino, Turin, Italy; University of Belgrade, Belgrade, Serbia; Department of Rheumatology, MC Groep, Lelystad, the Netherlands; APHP, Hôpital Ambroise Paré, Rheumatology Department, Boulogne-Billancourt; INSERM U1173, Laboratoire d'Excellence INFLAMEX, UFR Simone Veil, Versailles-Saint-Quentin University, Saint-Quentin en Yvelines, France; Division of Musculoskeletal and Rheumatic Diseases, Instituto Nacional de Rehabilitacion Luis Guillermo Ibarra Ibarra, Mexico City, Mexico; Rehabilitation Clinical Hospital, Cluj-Napoca; Sf. Maria Hospital, Bucharest, Romania; Instituto Poal, University of Barcelona, Barcelona; Department of Rheumatology, Joint and Bone Research Unit, Hospital Universitario Fundación Jimenez Deaz and Autónoma University, Madrid, Spain; Immanuel Krankenhaus Berlin, Medical Center for Rheumatology Berlin-Buch Berlin, Berlin, Germany; Center for Rheumatology and Spine Diseases, Rigshospitalet, Copenhagen, Denmark; Lausanne University Hospital, Lausanne, Switzerland.

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http://dx.doi.org/10.3899/jrheum.161057DOI Listing
November 2017

Metabolic progression to clinical phenotype in classic Fabry disease.

Ital J Pediatr 2017 Jan 3;43(1). Epub 2017 Jan 3.

Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126, Torino, Italy.

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http://dx.doi.org/10.1186/s13052-016-0320-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5209809PMC
January 2017

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

Eur J Paediatr Neurol 2016 Nov 15;20(6):839-842. Epub 2016 Aug 15.

Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126, Torino, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.08.006DOI Listing
November 2016

Transdermal rotigotine in dihydropteridine reductase deficiency.

J Neurol Sci 2016 Aug 9;367:237-8. Epub 2016 Jun 9.

Department of Neuroscience "Rita Levi Montalcini", University of Turin, via Cherasco 15, 10126 Torino, Italy.

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http://dx.doi.org/10.1016/j.jns.2016.06.018DOI Listing
August 2016

Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency.

J Pediatr 2016 Jan 27;168:236-239.e1. Epub 2015 Oct 27.

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2015.09.062DOI Listing
January 2016

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

J Pediatr 2015 Nov 9;167(5):1173. Epub 2015 Sep 9.

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2015.08.022DOI Listing
November 2015

Genealogy of breastfeeding.

Eur J Pediatr 2016 Jan 13;175(1):105-12. Epub 2015 Aug 13.

Department of Pediatrics, Regina Margherita Children Hospital, University of Torino, Piazza Polonia 94, 10126, Torino, Italy.

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http://dx.doi.org/10.1007/s00431-015-2605-6DOI Listing
January 2016

Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia.

Pediatrics 2015 Jul 15;136(1):e252-6. Epub 2015 Jun 15.

Department of Pediatrics,

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http://dx.doi.org/10.1542/peds.2015-0175DOI Listing
July 2015

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

World J Pediatr 2015 May 9;11(2):160-4. Epub 2015 Mar 9.

Department of Pediatrics, University of Torino, Torino, Italy,

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http://dx.doi.org/10.1007/s12519-015-0017-3DOI Listing
May 2015

Short prolactin profile for monitoring treatment in BH4 deficiency.

Eur J Paediatr Neurol 2015 May 9;19(3):360-3. Epub 2015 Feb 9.

Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126, Torino, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.01.010DOI Listing
May 2015

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

Muscle Nerve 2015 Feb 23;51(2):302-3. Epub 2014 Dec 23.

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1002/mus.24522DOI Listing
February 2015

Fracture odds and body mass index in children.

J Pediatr 2014 Dec 17;165(6):1274. Epub 2014 Sep 17.

Department of Pediatrics and Public Health, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2014.08.021DOI Listing
December 2014

Weaning the normal infant.

Acta Paediatr 2014 Apr;103(4):353-5

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http://dx.doi.org/10.1111/apa.12543DOI Listing
April 2014

High frequency ultrasound can detect improvement of lesions in juvenile localized scleroderma.

Mod Rheumatol 2014 Sep 18;24(5):869-73. Epub 2013 Oct 18.

Department of Sperimental and Clinical Medicine, Section Rheumatology, AOUC, University of Florence , Florence , Italy.

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http://dx.doi.org/10.3109/14397595.2013.844301DOI Listing
September 2014

Feeding the normal newborn: whose art is it?

Acta Paediatr 2013 Oct 15;102(10):938-40. Epub 2013 Jun 15.

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1111/apa.12309DOI Listing
October 2013

Cornea verticillata and Fabry disease.

J Pediatr 2013 Aug 13;163(2):609. Epub 2013 Apr 13.

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2013.03.013DOI Listing
August 2013

Later effects of metabolic control in phenylketonuria.

Mol Genet Metab 2013 May 20;109(1):118. Epub 2013 Feb 20.

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http://dx.doi.org/10.1016/j.ymgme.2013.02.007DOI Listing
May 2013

The new frontiers of ultrasound in the complex world of vasculitides and scleroderma.

Rheumatology (Oxford) 2012 Dec;51 Suppl 7:vii26-30

Department of Internal Medicine, Section of Rheumatology, University of Florence, V. Pieraccini 18, 50139 Florence, Italy.

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http://dx.doi.org/10.1093/rheumatology/kes336DOI Listing
December 2012

Ultrasonography of the hip.

Med Ultrason 2012 Sep;14(3):217-24

Centre of Rheumatology St. Irina, Sofia, Bulgaria.

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September 2012

Ultrasound assessment of the elbow.

Med Ultrason 2012 Jun;14(2):141-6

Institute of Rheumatology, Medical School, University of Belgrade, Belgrade, Serbia.

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June 2012

Ultrasound of the shoulder.

Med Ultrason 2012 Jun;14(2):133-40

Centre of Rheumatology St Irina, Sofia, Bulgaria.

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June 2012

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

Ann Rheum Dis 2013 Mar 15;72(3):390-5. Epub 2012 May 15.

Department of Biomedicine, Division of Rheumatology, AOUC, Excellence Centre for Research, Transfer and High Education DENOthe, University of Florence, Via Pieraccini, 18-50139, Firenze, Italy.

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http://dx.doi.org/10.1136/annrheumdis-2011-201072DOI Listing
March 2013

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

Endocr J 2012 11;59(6):497-502. Epub 2012 Mar 11.

Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, University of Torino, Italy.

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http://dx.doi.org/10.1507/endocrj.ej11-0406DOI Listing
November 2012

Ultrasound of the hand and wrist in rheumatology.

Med Ultrason 2012 Mar;14(1):42-8

Sf. Maria Clinical Hospital, Bucharest, Romania.

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March 2012

Ultrasound of the ankle and foot in rheumatology.

Med Ultrason 2012 Mar;14(1):34-41

Rheumatology Division, Department of Rehabilitation II, Rehabilitation Clinical Hospital Cluj-Napoca, Romania.

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March 2012

Dopamine agonists in dihydropteridine reductase deficiency.

Mol Genet Metab 2012 Apr 25;105(4):582-4. Epub 2012 Jan 25.

Department of Pediatrics, University of Torino, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S109671921200017
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http://dx.doi.org/10.1016/j.ymgme.2012.01.013DOI Listing
April 2012

The role of Doppler ultrasound in rheumatic diseases.

Rheumatology (Oxford) 2012 Jun 16;51(6):976-82. Epub 2012 Jan 16.

Dipartimento Medicina Interna e Specialità Mediche: Reumatologia, Sapienza Università di Roma, V. le del Policlinico 155, Rome 00161, Italy.

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http://dx.doi.org/10.1093/rheumatology/ker433DOI Listing
June 2012

Longitudinal ultrasound and clinical follow-up of Baker's cysts injection with steroids in knee osteoarthritis.

Clin Rheumatol 2012 Apr 27;31(4):727-31. Epub 2011 Dec 27.

Division of Rheumatology AOUC, Denothe Centre, Department of Biomedicine, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1007/s10067-011-1909-9DOI Listing
April 2012

Determinants of thyrotropin rise in congenital hypothyroidism.

J Pediatr 2011 Dec 13;159(6):1050; author reply 1050-1. Epub 2011 Sep 13.

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http://dx.doi.org/10.1016/j.jpeds.2011.08.026DOI Listing
December 2011

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

J Pediatr Gastroenterol Nutr 2011 Mar;52(3):345-50

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1097/MPG.0b013e3182093b32DOI Listing
March 2011

Tetrahydrobiopterin and phenylketonuria.

J Pediatr 2011 May 15;158(5):864; author reply 864-5. Epub 2011 Feb 15.

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http://dx.doi.org/10.1016/j.jpeds.2010.12.002DOI Listing
May 2011

Lysosomal enzyme activities in phenylketonuria.

Mol Genet Metab 2011 Apr 2;102(4):508. Epub 2011 Feb 2.

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http://dx.doi.org/10.1016/j.ymgme.2011.01.014DOI Listing
April 2011

Phenotyping and treatment of phenylketonuria.

Lancet 2011 Feb;377(9764):465; author reply 466

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http://dx.doi.org/10.1016/S0140-6736(11)60157-8DOI Listing
February 2011

Ultrasound elastography assessment of skin involvement in systemic sclerosis: lights and shadows.

J Rheumatol 2010 Aug 15;37(8):1688-91. Epub 2010 Jun 15.

Rheumatology Unit, Department of Clinical and Medical Therapy, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.3899/jrheum.090974DOI Listing
August 2010

The overlap between Sotos and Beckwith-Wiedemann syndromes.

J Pediatr 2010 Jun 14;156(6):1035-1036. Epub 2010 Apr 14.

Department of Pediatrics, University of Torino, Torino, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S00223476100020
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http://dx.doi.org/10.1016/j.jpeds.2010.02.063DOI Listing
June 2010

Bone quantitative ultrasound in congenital and acquired childhood multiple pituitary failure.

Ultrasound Med Biol 2010 May 9;36(5):726-32. Epub 2010 Apr 9.

Department of Pediatrics, University of Torino, Regina Margherita Children Hospital, Torino, Italy.

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http://dx.doi.org/10.1016/j.ultrasmedbio.2010.02.014DOI Listing
May 2010

Breastfeeding effects on newborn screening.

J Pediatr 2010 Jun 24;156(6):1033. Epub 2010 Mar 24.

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2010.01.055DOI Listing
June 2010

Prospective bone ultrasound patterns during childhood acute lymphoblastic leukemia treatment.

Bone 2010 Apr 4;46(4):1016-20. Epub 2010 Jan 4.

Division of Pediatric Endocrinology, Department of Pediatric Endocrinology and Diabetology, University of Torino, Regina Margherita Children Hospital, Piazza Polonia 94, 10126, Torino, Italy.

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http://dx.doi.org/10.1016/j.bone.2009.12.019DOI Listing
April 2010

Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.

Metabolism 2010 May 14;59(5):645-52. Epub 2009 Nov 14.

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1016/j.metabol.2009.09.008DOI Listing
May 2010

High frequency ultrasound measurement of digital dermal thickness in systemic sclerosis.

Ann Rheum Dis 2010 Jun 17;69(6):1140-3. Epub 2009 Sep 17.

Department of Biomedicine, Division of Rheumatology AOUC, Centre Denothe, University of Florence, Villa Monna Tessa, Viale Pieraccini 18, Florence 50139, Italy.

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http://ard.bmj.com/cgi/doi/10.1136/ard.2009.114843
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http://dx.doi.org/10.1136/ard.2009.114843DOI Listing
June 2010

Remittent hyperammonemia in congenital portosystemic shunt.

Eur J Pediatr 2010 Mar 18;169(3):369-72. Epub 2009 Jul 18.

Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126 Torino, Italy.

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http://dx.doi.org/10.1007/s00431-009-1031-zDOI Listing
March 2010

Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study.

Ultrasound Med Biol 2008 Jul 3;34(7):1049-52. Epub 2008 Mar 3.

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1016/j.ultrasmedbio.2007.12.013DOI Listing
July 2008

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

Mol Genet Metab 2008 Mar 3;93(3):295-305. Epub 2007 Dec 3.

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zürich, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2007.10.004DOI Listing
March 2008

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

Am J Kidney Dis 2007 Sep;50(3):441-9

Department of Pediatric Endocrinology, Regina Margherita Children's Hospital, Torino, Italy.

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http://dx.doi.org/10.1053/j.ajkd.2007.06.002DOI Listing
September 2007