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Sulfonylurea-Insensitive Permanent Neonatal Diabetes Caused by a Severe Gain-of-Function Tyr330His Substitution in Kir6.2.
- Published in:
- Hormone Research in Paediatrics, 2022, v. 95, n. 3, p. 215, doi. 10.1159/000521858
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- Publication type:
- Article
Growth Trajectory and Adult Height in Children with Nonclassical Congenital Adrenal Hyperplasia.
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- Hormone Research in Paediatrics, 2020, v. 93, n. 3, p. 173, doi. 10.1159/000509548
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- Publication type:
- Article
Next-Generation Sequencing Identifies Different Genetic Defects in 2 Patients with Primary Adrenal Insufficiency and Gonadotropin-Independent Precocious Puberty.
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- Hormone Research in Paediatrics, 2018, v. 90, n. 3, p. 203, doi. 10.1159/000492496
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- Publication type:
- Article
Growth Trajectory in Children with Type 1 Diabetes Mellitus: The Impact of Insulin Treatment and Metabolic Control.
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- Hormone Research in Paediatrics, 2018, v. 89, n. 3, p. 172, doi. 10.1159/000486698
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- Publication type:
- Article
Water Balance and 'Salt Wasting' in the First Year of Life: The Role of Aldosterone-Signaling Defects.
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- Hormone Research in Paediatrics, 2016, v. 86, n. 3, p. 143, doi. 10.1159/000449057
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- Publication type:
- Article
A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family.
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- Hormone Research in Paediatrics, 2016, v. 86, n. 1, p. 53, doi. 10.1159/000444712
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- Publication type:
- Article
Endocrine Implications of Neurofibromatosis 1 in Childhood.
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- Hormone Research in Paediatrics, 2015, v. 83, n. 4, p. 232, doi. 10.1159/000369802
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- Publication type:
- Article
Combined Therapy with Insulin and Growth Hormone in 17 Patients with Type-1 Diabetes and Growth Disorders.
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- Hormone Research in Paediatrics, 2014, v. 82, n. 1, p. 53, doi. 10.1159/000360856
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- Publication type:
- Article
Residual β-Cell Mass Influences Growth of Prepubertal Children With Type 1 Diabetes.
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- Hormone Research in Paediatrics, 2013, v. 80, n. 4, p. 287, doi. 10.1159/000355116
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- Publication type:
- Article
NREM Sleep Architecture and Relation to GH/IGF-1 Axis in Laron Syndrome.
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- Hormone Research in Paediatrics, 2010, v. 73, n. 5, p. 414, doi. 10.1159/000308177
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- Publication type:
- Article
Autoimmune Thyroid Diseases in Children.
- Published in:
- Journal of Thyroid Research, 2011, p. 1, doi. 10.4061/2011/675703
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- Publication type:
- Article
Glucose tolerance affects pubertal growth and final height of children with cystic fibrosis.
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- Pediatric Pulmonology, 2015, v. 50, n. 2, p. 144, doi. 10.1002/ppul.23042
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- Publication type:
- Article
Birth weight influences the clinical phenotype and the metabolic control of patients with type 1 diabetes (T1D).
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- Diabetes/Metabolism Research & Reviews, 2013, v. 29, n. 1, p. 60, doi. 10.1002/dmrr.2361
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- Publication type:
- Article
Blue eyes as a risk factor for type 1 diabetes.
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- Diabetes/Metabolism Research & Reviews, 2011, v. 27, n. 6, p. 609, doi. 10.1002/dmrr.1214
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- Publication type:
- Article
Erratum to: How does long-term parenteral nutrition impact the bone mineral status of children with intestinal failure?
- Published in:
- 2010
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- Publication type:
- Correction notice
How does long-term parenteral nutrition impact the bone mineral status of children with intestinal failure?
- Published in:
- 2010
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- Publication type:
- journal article
Chronic Kidney Disease and Growth Failure in Children.
- Published in:
- Children, 2024, v. 11, n. 7, p. 808, doi. 10.3390/children11070808
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- Publication type:
- Article
Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy.
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- European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1735, doi. 10.1007/s00431-014-2447-7
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- Publication type:
- Article
Cushing's Syndrome in a 6-month-old Boy: A Rare Side-effect due to Inadequate Use of Topical Corticosteroids.
- Published in:
- 2016
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- Publication type:
- Case Study
Clinical features suggestive of non-classical 21-hydroxylase deficiency in children presenting with precocious pubarche.
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- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 11/12, p. 1059, doi. 10.1515/jpem-2012-0241
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- Publication type:
- Article
Clinical Presentation and Autoimmune Characteristics of Very Young Children at the Onset of Type 1 Diabetes Mellitus.
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- Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 11, p. 1151, doi. 10.1515/jpem.2010.180
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- Publication type:
- Article
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.
- Published in:
- 2014
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- Publication type:
- Journal Article
Somatostatin Infusion Withdrawal: Studies in Normal Children and in Children with Growth Hormone Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 12, p. 4426, doi. 10.1210/jcem.84.12.6282
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- Publication type:
- Article
"Impact of COVID-19 pandemic lockdown on early onset of puberty: experience of an Italian tertiary center".
- Published in:
- 2021
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- Publication type:
- Letter
Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities.
- Published in:
- Medicina (1010660X), 2022, v. 58, n. 1, p. 97, doi. 10.3390/medicina58010097
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- Publication type:
- Article
Pain Study in X-Linked Adrenoleukodystrophy in Males and Females.
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- Pain & Therapy, 2021, v. 10, n. 1, p. 505, doi. 10.1007/s40122-021-00245-0
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- Publication type:
- Article
Glycated haemoglobin in the first year after diagnosis of type 1 diabetes is an independent risk factor for diabetic retinopathy: The IMDIAB 25 years follow‐up study.
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- Diabetes, Obesity & Metabolism, 2023, v. 25, n. 11, p. 3415, doi. 10.1111/dom.15213
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- Publication type:
- Article
T-cell mediated autoimmunity to the insulinoma-associated protein 2 islet tyrosine phosphatase in type 1 diabetes mellitus.
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- European Journal of Endocrinology, 1999, v. 141, n. 3, p. 272, doi. 10.1530/eje.0.1410272
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- Publication type:
- Article
The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.
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- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 9, p. 2349, doi. 10.1210/clinem/dgae095
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- Publication type:
- Article
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.
- Published in:
- 2021
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- Publication type:
- journal article
Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.
- Published in:
- Italian Journal of Pediatrics, 2017, v. 43, p. 1
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- Publication type:
- Article
Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience.
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- Italian Journal of Pediatrics, 2016, v. 42, p. 1, doi. 10.1186/s13052-016-0282-3
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- Publication type:
- Article
Triple A (Allgrove) syndrome: an unusual association with syringomyelia.
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- Italian Journal of Pediatrics, 2013, v. 39, n. 1, p. 1, doi. 10.1186/1824-7288-39-39
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- Publication type:
- Article
Sleep Characteristics in Children with Growth Hormone Deficiency.
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- Neuroendocrinology, 2011, v. 94, n. 1, p. 66, doi. 10.1159/000326818
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- Publication type:
- Article
X-linked adrenoleukodystrophy and primary adrenal insufficiency.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1309053
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- Publication type:
- Article
COVID-19 pandemic phases and female precocious puberty: The experience of the past 4 years (2019 through 2022) in an Italian tertiary center.
- Published in:
- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1132769
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- Publication type:
- Article
1636-P: Transient Neonatal Diabetes: Clinical Differences between Patients Bearing KATP Mutations and 6q24 Defects May Guide Genetic Screening.
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-1636-P
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- Publication type:
- Article
Effect of Calcitriol on Bone Turnover and Osteocalcin in Recent-Onset Type 1 Diabetes.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056488
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- Publication type:
- Article
Early and progressive insulin resistance in young, non-obese cancer survivors treated with hematopoietic stem cell transplantation.
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- Pediatric Blood & Cancer, 2015, v. 62, n. 9, p. 1650, doi. 10.1002/pbc.25603
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- Publication type:
- Article
Renal Tubular Dysfunction Fully Accounts for Plasma Biochemical Abnormalities in Type 1A Pseudohypoparathyroidism.
- Published in:
- 2018
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- Publication type:
- journal article
Bovine β-casein antibodies in breast- and bottle-fed infants: their relevance in Type 1 diabetes.
- Published in:
- Diabetes/Metabolism Research & Reviews, 2001, v. 17, n. 1, p. 51, doi. 10.1002/1520-7560(2000)9999:9999<::AID-DMRR156>3.0.CO;2-H
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- Publication type:
- Article
Adrenal crisis in infants and young children with adrenal insufficiency: Management and prevention.
- Published in:
- Frontiers in Endocrinology, 2023, v. 14, p. 01, doi. 10.3389/fendo.2023.1133376
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- Publication type:
- Article
Blue Eyes and Fair Skin Are Risk Factors for Type 1 Diabetes in the Mediterranean Region.
- Published in:
- Diabetes, 2007, v. 56, p. A267
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- Publication type:
- Article
The Gly972-->Arg IRS-1 variant is associated with type 1 diabetes in continental Italy.
- Published in:
- 2003
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- Publication type:
- journal article
The Gly[sup972]→Arg IRD-1 Variant Is Associated With Type 1 Diabetes in Continental Italy.
- Published in:
- Diabetes, 2003, v. 52, n. 3, p. 887, doi. 10.2337/diabetes.52.3.887
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- Publication type:
- Article
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.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 899, doi. 10.1007/s10545-011-9432-3
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- Publication type:
- Article
Prevalence of prediabetes in children and adolescents by class of obesity.
- Published in:
- Pediatric Obesity, 2022, v. 17, n. 7, p. 1, doi. 10.1111/ijpo.12900
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- Publication type:
- Article
Diabetes-related autoantibodies in children with acute lymphoblastic leukemia.
- Published in:
- 2012
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- Publication type:
- letter
Diabetes-Related Autoantibodies in Children With Acute Lymphoblastic Leukemia.
- Published in:
- Diabetes Care, 2012, v. 35, n. 3, p. e23, doi. 10.2337/dc11-1946
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- Publication type:
- Article
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).
- Published in:
- Diabetes Care, 2010, v. 33, n. 11, p. e140, doi. 10.2337/dc10-1168
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- Publication type:
- Article