Detalles de la búsqueda
1.
Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.
Blood
; 143(24): 2504-2516, 2024 Jun 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-38579284
2.
SMC1A epilepsy syndrome: clinical data from a large international cohort.
Am J Med Genet A
; 194(7): e63577, 2024 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-38421079
3.
Association between Physical Activity and Menstrual Cycle Disorders in Young Athletes.
Int J Sports Med
; 2024 Mar 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-38417813
4.
Evidence of Treatment Benefits in Patients with Mucopolysaccharidosis Type I-Hurler in Long-term Follow-up Using a New Magnetic Resonance Imaging Scoring System.
J Pediatr
; 240: 297-301.e5, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34547335
5.
Risk factors for endocrine complications in transfusion-dependent thalassemia patients on chelation therapy with deferasirox: a risk assessment study from a multi-center nation-wide cohort.
Haematologica
; 107(2): 467-477, 2022 02 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33406815
6.
High levels of physical activity in female adolescents with anorexia nervosa: medical and psychopathological correlates.
Eat Weight Disord
; 27(1): 151-162, 2022 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-33704692
7.
Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities.
Medicina (Kaunas)
; 58(1)2022 Jan 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35056405
8.
Primary immunodeficiencies, autoimmune hyperthyroidism, coeliac disease and systemic lupus erythematosus in childhood immune thrombocytopenia.
Acta Paediatr
; 110(2): 643-651, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33025591
9.
A Novel Germline Mutation of ADA2 Gene in Two "Discordant" Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype.
Int J Mol Sci
; 22(15)2021 Aug 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34361096
10.
Hepatic focal nodular hyperplasia after pediatric hematopoietic stem cell transplantation: The impact of hormonal replacement therapy and iron overload.
Pediatr Blood Cancer
; 67(4): e28137, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31889398
11.
Phenotypic variability in two siblings with monogenic diabetes due to the same ABCC8 gene mutation.
Pediatr Diabetes
; 20(4): 482-485, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30734462
12.
Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome.
Br J Haematol
; 189(4): e171-e174, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32196641
13.
Long-Term Complications after Allogeneic Hematopoietic Stem Cell Transplantation with Treosulfan- or Busulfan-Based Conditioning in Pediatric Patients with Acute Leukemia or Myelodysplastic Syndrome: Results of an Associazione Italiana Ematologia Oncologia Pediatrica Retrospective Study.
Transplant Cell Ther
; 30(4): 433.e1-433.e10, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38176654
14.
Endocrine, auxological and metabolic profile in children and adolescents with Down syndrome: from infancy to the first steps into adult life.
Front Endocrinol (Lausanne)
; 15: 1348397, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38654931
15.
Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome.
Sci Transl Med
; 16(745): eadi8214, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38691622
16.
The Complex Cyto-Molecular Landscape of Thyroid Nodules in Pediatrics.
Cancers (Basel)
; 15(7)2023 Mar 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-37046700
17.
Iron Overload Following Hematopoietic Stem Cell Transplantation: Prevalence, Severity, and Management in Children and Adolescents with Malignant and Nonmalignant Diseases.
Transplant Cell Ther
; 29(4): 271.e1-271.e12, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36708803
18.
The bronchiolitis epidemic in 2021-2022 during the SARS-CoV-2 pandemic: experience of a third level centre in Northern Italy.
Ital J Pediatr
; 49(1): 26, 2023 Feb 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-36803828
19.
Current practices of follow-up programs for childhood cancer survivors in Italy.
Tumori
; 109(6): 555-561, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37434559
20.
Thyroid Function Tests in Children and Adolescents With Trisomy 21: Definition of Syndrome-Specific Reference Ranges.
J Clin Endocrinol Metab
; 108(11): 2779-2788, 2023 10 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-37279507