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Lista de obras de Marco Cappa

1-Hour plasma glucose in obese youth

artículo científico publicado en 2012

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

artículo científico publicado en 2015

A case of primary selective hypoaldosteronism carrying three mutations in the aldosterone synthase (Cyp11b2) gene

artículo científico publicado en 2012

A mixture of oleic, erucic and conjugated linoleic acids modulates cerebrospinal fluid inflammatory markers and improve somatosensorial evoked potential in X-linked adrenoleukodystrophy female carriers

artículo científico publicado en 2011

A new multiplex method for the diagnosis of peroxisomal disorders allowing simultaneous determination of plasma very-long-chain fatty acids, phytanic, pristanic, docosahexaenoic and bile acids by high-performance liquid chromatography-atmospheric pr

artículo científico publicado en 2016

A new therapeutic approach for X-linked adrenoleukodystrophy

artículo científico publicado en 1990

A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED).

artículo científico publicado en 2012

A study of growth hormone release in man after oral administration of amino acids

scientific article published on 01 January 1981

Abnormal glucose tolerance in children with cystic fibrosis: the predictive role of continuous glucose monitoring system

artículo científico publicado en 2010

Adrenal steroidogenic defects in children with precocious pubarche

artículo científico publicado en 1992

Adrenoleukodystrophy

artículo científico publicado en 2010

Adult height in patients with permanent growth hormone deficiency with and without multiple pituitary hormone deficiencies

artículo científico publicado en 2006

Albuminuria and insulin resistance in children with biopsy proven non-alcoholic fatty liver disease.

artículo científico publicado en 2009

Altered B cell homeostasis and toll-like receptor 9-driven response in type 1 diabetes carriers of the C1858T PTPN22 allelic variant: implications in the disease pathogenesis

artículo científico publicado en 2014

Altered bone mineral density in patients with complete androgen insensitivity syndrome.

artículo científico publicado en 1998

An 8-year-old boy with autoimmune hepatitis and Candida onychosis as the first symptoms of autoimmune polyglandular syndrome (APS1): identification of a new homozygous mutation in the autoimmune regulator gene (AIRE).

artículo científico publicado en 2007

An observational study comparing continuous subcutaneous insulin infusion (CSII) and insulin glargine in children with type 1 diabetes

artículo científico publicado en 2005

Analysis of the autoimmune regulator gene in patients with autoimmune non-APECED polyendocrinopathies.

artículo científico publicado en 2013

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of seven additional sicilian patients and overview of the overall series from sicily.

artículo científico publicado en 2014

Autoimmune thyroid diseases in children

artículo científico publicado en 2010

BioEnterics intragastric balloon for treatment of morbid obesity in Prader-Willi syndrome: specific risks and benefits.

artículo científico publicado en 2008

Birth weight influences the clinical phenotype and the metabolic control of patients with type 1 diabetes (T1D).

artículo científico publicado en 2013

Bone and body composition analyzed by Dual-energy X-ray Absorptiometry (DXA) in clinical and nutritional evaluation of young patients with Cystic Fibrosis: a cross-sectional study

artículo científico publicado en 2009

Bone mineral density in adolescent girls with early onset of anorexia nervosa

artículo científico publicado en 2007

Brain Magnetic Resonance Imaging as First-Line Investigation for Growth Hormone Deficiency Diagnosis in Early Childhood

artículo científico publicado en 2015

Cardiopulmonary response to exercise and cardiac assessment in patients with turner syndrome

artículo científico publicado en 2011

Cardiovascular fitness is impaired in children born small for gestational age

artículo científico publicado en 2014

Cardiovascular fitness, insulin resistance and metabolic syndrome in severely obese prepubertal Italian children

artículo científico publicado en 2008

Central adrenal insufficiency in young adults with Prader-Willi syndrome

artículo científico publicado en 2013

Central precocious puberty: treatment with triptorelin 11.25 mg

Children with Prader-Willi syndrome exhibit more evident meal-induced responses in plasma ghrelin and peptide YY levels than obese and lean children

artículo científico publicado en 2009

Clinical Presentation and Autoimmune Characteristics of Very Young Children at the Onset of Type 1 Diabetes Mellitus ⬇️

artículo científico publicado el 1 de noviembre de 2010

Clinical features suggestive of non-classical 21-hydroxylase deficiency in children presenting with precocious pubarche

scientific article published on 01 January 2012

Computer use, free time activities and metabolic control in patients with type 1 diabetes

artículo científico publicado en 2010

Congenital hyperinsulinism, neonatal diabetes and the risk of malignancies: an international collaborative study. Preliminary communication.

artículo científico publicado en 2015

Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience.

artículo científico publicado en 2016

Diabetes-related autoantibodies in children with acute lymphoblastic leukemia

artículo científico publicado en 2012

Divergent phenotype of two siblings human leukocyte antigen identical, affected by nonclassical and classical congenital adrenal hyperplasia caused by 21-hydroxylase deficiency

artículo científico publicado en 2006

Does Graves' disease during puberty influence adult bone mineral density?

artículo científico publicado en 2002

Early Glucose Derangement Detected by Continuous Glucose Monitoring and Progression of Liver Fibrosis in Nonalcoholic Fatty Liver Disease: An Independent Predictive Factor?

artículo científico publicado en 2015

Early and progressive insulin resistance in young, non-obese cancer survivors treated with hematopoietic stem cell transplantation

artículo científico publicado en 2015

Early retesting by GHRH + arginine test shows normal GH response in most children with idiopathic GH deficiency

artículo científico publicado en 2014

Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations

artículo científico publicado en 2015

Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy.

artículo científico publicado en 2007

Effect of the enhancement of the cholinergic tone by pyridostigmine on the exercise-induced growth hormone release in man

artículo científico publicado en 1993

Effects of exogenous hexacosanoic acid on biochemical myelin composition in weaning and post-weaning rats

artículo científico publicado en 1997

Effects of replacement therapy on sleep architecture in children with growth hormone deficiency

artículo científico publicado en 2012

Efficacy and safety of growth hormone treatment in children with short stature: the Italian cohort of the GeNeSIS clinical study

artículo científico publicado en 2015

Endocrine autoimmunity in Turner syndrome

artículo científico publicado en 2013

Epidemiology, Presentation and Long-Term Evolution of Graves' Disease in Children, Adolescents and Young Adults with Turner Syndrome

scientific article published on 31 January 2014

Exercise-induced GH secretion is related to puberty

scientific article published on 30 September 2020

Exogenous growth hormone administration does not inhibit the growth hormone response to hexarelin in normal men

artículo científico publicado en 1995

Expression of PD-1 Molecule on Regulatory T Lymphocytes in Patients with Insulin-Dependent Diabetes Mellitus.

artículo científico publicado en 2015

Family history and ethnicity influencing clinical presentation of type 1 diabetes in childhood.

artículo científico publicado en 2015

Fatty liver and insulin resistance in children with hypobetalipoproteinemia: the importance of aetiology.

artículo científico publicado en 2013

Final height after growth hormone therapy in non-growth-hormone-deficient children with short stature

artículo científico publicado en 1994

Final height in girls with central idiopathic precocious puberty treated with gonadotropin-releasing hormone analog and oxandrolone

artículo científico publicado en 2006

Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia.

artículo científico publicado en 2011

Functional and structural analysis of four novel mutations of CYP21A2 gene in Italian patients with 21-hydroxylase deficiency

artículo científico publicado en 2014

Glucose tolerance affects pubertal growth and final height of children with cystic fibrosis

artículo científico publicado en 2014

Glucose tolerance status in 510 children and adolescents attending an obesity clinic in Central Italy.

artículo científico publicado en 2009

Glutathione imbalance in patients with X-linked adrenoleukodystrophy ⬇️

artículo científico publicado el 22 de mayo de 2013

Growth hormone (GH) response to combined pyridostigmine and GH-releasing hormone administration in patients with Prader-Labhard-Willi syndrome

artículo científico publicado en 1993

Growth hormone response to growth hormone releasing hormone 1-40 in Turner's syndrome

scientific article published on 01 January 1987

Growth hormone response to oral clonidine test in normal and short children

scientific article published on 01 December 1993

Growth hormone response to physical exercise in growing patients with classic congenital adrenal hyperplasia

scientific article published on 24 June 2009

Growth hormone response to standard provocative stimuli and combined tests in very young children with Prader-Willi syndrome

artículo científico publicado en 2014

Growth hormone treatment of adolescents with growth hormone deficiency (GHD) during the transition period: results of a survey among adult and paediatric endocrinologists from Italy. Endorsed by SIEDP/ISPED, AME, SIE, SIMA.

artículo científico publicado en 2014

Growth hormone treatment started in the first year of life in infants with chronic renal failure

artículo científico publicado en 2009

Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene.

artículo científico publicado en 2003

High dose immunoglobulin IV treatment in adrenoleukodystrophy.

artículo científico publicado en 1994

How does long-term parenteral nutrition impact the bone mineral status of children with intestinal failure?

artículo científico publicado en 2009

IGF2 methylation is associated with lipid profile in obese children

artículo científico publicado en 2013

Impact of long-term use of eHealth systems in adolescents with type 1 diabetes treated with sensor-augmented pump therapy

artículo científico publicado en 2015

Impaired energy expenditure despite normal cardiovascular capacity in children with type 1 diabetes

artículo científico publicado en 2012

Incidence of Type 1 Diabetes Has Doubled in Rome and the Lazio Region in the 0- to 14-Year Age-Group: A 6-Year Prospective Study (2004-2009)

artículo científico publicado en 2010

Indirect methods for TSH reference interval: at last fit for purpose?

scientific article published on 01 January 2011

Influence of gender and pubertal stage at diagnosis on growth outcome in childhood thyrotoxicosis: results of a collaborative study

artículo científico publicado en 2006

Insulin sensitivity from preschool to school age in patients with severe obesity

artículo científico publicado en 2013

Inter-society consensus document on treatment and prevention of bronchiolitis in newborns and infants

artículo científico publicado en 2014

Interaction of free fatty acids and arginine on growth hormone secretion in man

scientific article published on 01 February 1994

Is subclinical adrenal failure in adrenoleukodystrophy/adrenomyeloneuropathy reversible?

artículo científico publicado en 2011

Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.

artículo científico publicado en 2015

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.

artículo científico publicado en 2017

Long-term first line medical treatment in a 4-year-old girl with Xq26.3 microduplication-negative somatotropinoma. Case report and literature review.

artículo científico publicado en 2016

Long-term results of the surgical treatment of craniopharyngioma: the experience at the Policlinico Gemelli, Catholic University, Rome

artículo científico publicado en 2005

Maintenance of a normal meal-induced decrease in plasma ghrelin levels in children with Prader-Willi syndrome

artículo científico publicado en 2004

Metabolic Factors Affecting Residual Beta Cell Function Assessed by C-Peptide Secretion in Patients with Newly Diagnosed Type 1 Diabetes

artículo científico publicado en 2006

Metabolic syndrome in adult patients with Prader-Willi syndrome.

artículo científico publicado en 2012

Metabolic syndrome in children with Prader–Willi syndrome: the effect of obesity

artículo científico publicado en 2010

Metabolic syndrome in italian obese children and adolescents: stronger association with central fat depot than with insulin sensitivity and birth weight

artículo científico publicado en 2011

Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.

artículo científico publicado en 2003

Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p.

artículo científico publicado en 2012

Multiple forms of hypogonadism of central, peripheral or combined origin in males with Prader-Willi syndrome.

artículo científico publicado en 2012

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

artículo científico publicado en 2015

NREM sleep architecture and relation to GH/IGF-1 axis in Laron syndrome

artículo científico publicado en 2010

Neurophysiological abnormalities in adrenoleukodystrophy carriers. Evidence of different degrees of central nervous system involvement.

artículo científico publicado en 1997

New findings on X-linked Adrenoleukodystrophy: 5alpha-reductase isoform 2 relative gene expression is modified in affected fibroblasts

artículo científico publicado en 2004

No protective effect of calcitriol on beta-cell function in recent-onset type 1 diabetes: the IMDIAB XIII trial

artículo científico publicado en 2010

No thyroid abnormalities in patients submitted to cardiac catheterization in the first eighteen months of life

artículo científico publicado en 2011

Nocturnal hypoglycaemia in ACTH and GH deficient children: role of continuous glucose monitoring.

artículo científico publicado en 2013

Non-Alcoholic Fatty Liver Disease (NAFLD) in children and adolescents with Prader-Willi Syndrome (PWS).

artículo científico publicado en 2015

Non-conventional use of growth hormone therapy.

artículo científico publicado en 2006

Obese children with low birth weight demonstrate impaired beta-cell function during oral glucose tolerance test

artículo científico publicado en 2009

Ovarian hyperandrogenism in adolescents and young women with type I diabetes is primarily related to birth weight and body mass index

artículo científico publicado en 2011

Parathyroid hormone levels in pubertal uremic adolescents treated with growth hormone

artículo científico publicado en 2003

Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors

artículo científico publicado en 2004

Partially reversible hypopituitarism in an adolescent with a rathke cleft cyst

artículo científico publicado en 2012

Pediatric neuroendocrinology. Preface

artículo científico publicado en 2010

Pituicytoma and Cushing's Disease in a 7-Year-Old Girl: A Mere Coincidence?

artículo científico publicado en 2015

Pituitary magnetic resonance imaging in idiopathic and genetic growth hormone deficiency

artículo científico publicado en 2003

Pituitary-ovarian responses to leuprolide acetate testing in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

artículo científico publicado en 1996

Plasma levels of adrenomedullin in patients with adrenoleukodystrophy/adrenomyeloneuropathy

artículo científico publicado en 2005

Pre-diabetes in Italian obese children and youngsters

artículo científico publicado en 2011

Prenatal hydrocolpos in a male

Prevalence of elevated 1-h plasma glucose and its associations in obese youth.

artículo científico publicado en 2016

Prolactinomas in children and adolescents. Clinical presentation and long-term follow-up

scientific article published on 01 August 1998

Pyridostigmine potentiates L-dopa- but not arginine- and galanin-induced growth hormone secretion in children

artículo científico publicado en 1990

Raised C-reactive protein levels in patients with recent onset type 1 diabetes

artículo científico publicado en 2007

Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth

artículo científico publicado en 2010

Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche

artículo científico publicado en 2011

Reliability of provocative tests to assess growth hormone secretory status. Study in 472 normally growing children

scientific article published on 01 September 1996

Residual β-cell mass influences growth of prepubertal children with type 1 diabetes.

artículo científico publicado en 2013

Responses to GHRH plus arginine test are more concordant with IGF-I circulating levels than responses to arginine and clonidine provocative tests

scientific article published on 04 October 2011

Results of early reevaluation of growth hormone secretion in short children with apparent growth hormone deficiency

artículo científico publicado en 2002

Routine screening by brain magnetic resonance imaging is not indicated in every girl with onset of puberty between the ages of 6 and 8 years

artículo científico publicado en 2014

Sexual dimorphism in growth and insulin-like growth factor-I in children with type 1 diabetes mellitus

artículo científico publicado en 2014

Sexual dimorphism of body composition and insulin sensitivity across pubertal development in obese Caucasian subjects

artículo científico publicado en 2009

Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. 1988.

artículo científico publicado en 2013

Sleep characteristics in children with growth hormone deficiency

artículo científico publicado en 2011

Somatostatin infusion withdrawal: studies in the acute and recovery phase of anorexia nervosa, and in obesity.

artículo científico publicado en 2003

Somatostatinergic tone in children on chronic haemodialysis and after renal transplantation

artículo científico publicado en 1991

Somatotropic function in short stature: evaluation by integrated auxological and hormonal indices in 214 children. The Italian Collaborative Group of Neuroendocrinology

scientific article published on 01 July 1993

Streptococcus pneumoniae oropharyngeal colonization in school-age children and adolescents with type 1 diabetes mellitus: Impact of the heptavalent pneumococcal conjugate vaccine

artículo científico publicado en 2015

Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation

artículo científico publicado en 2006

Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene

article

Susceptibility to oxidation of plasma low-density lipoprotein in X-linked adrenoleukodystrophy: effects of simvastatin treatment

artículo científico publicado en 2000

Systematic review of metformin use in obese nondiabetic children and adolescents

artículo científico

Th 1 cytokine production by peripheral blood mononuclear cells in X-linked adrenoleukodystrophy

artículo científico publicado en 2001

The ALBA project: an evaluation of needs, management, fears of Italian young patients with type 1 diabetes in a school setting and an evaluation of parents' and teachers' perceptions

artículo científico publicado en 2011

The GHRH + arginine stimulated pituitary GH secretion in children and adults with Prader-Willi syndrome shows age- and BMI-dependent and genotype-related differences.

artículo científico publicado en 2013

The Gly972-->Arg IRS-1 variant is associated with type 1 diabetes in continental Italy

artículo científico publicado en 2003

The Italian National Survey for Prader–Willi syndrome: An epidemiologic study

article

The effect of short-term growth hormone or low-dose oxandrolone treatment in boys with constitutional growth delay

artículo científico publicado en 1991

The growth hormone response to hexarelin in children: reproducibility and effect of sex steroids.

artículo científico publicado en 1997

The growth hormone response to pyridostigmine plus growth hormone releasing hormone is not influenced by pubertal maturation

artículo científico publicado en 1991

The impact of real practice inappropriateness and devices' inefficiency to variability in growth hormone consumption

artículo científico publicado en 2014

The natural history of the normal/mild elevated TSH serum levels in children and adolescents with Hashimoto's thyroiditis and isolated hyperthyrotropinaemia: a 3-year follow-up

scientific article published on 01 March 2012

The response to gonadotropin releasing hormone (GnRH) stimulation test does not predict the progression to true precocious puberty in girls with onset of premature thelarche in the first three years of life.

artículo científico publicado en 2013

Thyroid autoimmunity in children with coeliac disease: a prospective survey

artículo científico publicado en 2011

Thyroid function tests in obese prepubertal children: correlations with insulin sensitivity and body fat distribution

artículo científico publicado en 2012

Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome

scientific article published on 01 January 2007

Triple A (Allgrove) syndrome: an unusual association with syringomyelia

artículo científico publicado en 2013

Two novel missense mutations causing adrenoleukodystrophy in Italian patients

article

Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome

artículo científico publicado en 2000

Unilateral cryptorchidism corrected in prepubertal age: evaluation of sperm parameters, hormones, and antisperm antibodies in adult age

artículo científico publicado en 1997

Use of GLP-1 receptor agonists in Prader-Willi Syndrome: report of six cases

artículo científico publicado en 2014

Use of metformin in pediatric age.

artículo científico publicado en 2011

VOIDING DYSFUNCTION IN X-LINKED ADRENOLEUKODYSTROPHY: SYMPTOM SCORE AND URODYNAMIC FINDINGS

scientific article published on 01 June 2004

XK-aprosencephaly and related entities

artículo científico publicado en 2005

ZnT8 antibodies in patients with cystic fibrosis: An expression of secondary beta-cell damage?

artículo científico publicado en 2013

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