Found: 21
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Diagnosis and management of urinary tract infections in children aged 2 months to 3 years in the Italian emergency units: the ItaUTI study.
- Published in:
- European Journal of Pediatrics, 2022, v. 181, n. 7, p. 2663, doi. 10.1007/s00431-022-04457-0
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- Publication type:
- Article
Correction: Diagnosis and management of urinary tract infections in children aged 2 months to 3 years in the Italian emergency units: the ItaUTI study.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01219-4
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- Publication type:
- Article
Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement.
- Published in:
- 2020
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- Publication type:
- journal article
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders.
- Published in:
- 2019
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- Publication type:
- journal article
Novel strategies for italian cherries developement and commercialization.
- Published in:
- Italus Hortus, 2019, v. 26, n. 1, p. 1, doi. 10.26353/j.itahort/2019.1.118
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- Publication type:
- Article
A novel homozygous mutation in the <italic>SLCO2A1</italic> gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1253, doi. 10.1002/ajmg.a.38677
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- Publication type:
- Article
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
- Published in:
- 2018
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- Publication type:
- journal article
Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes.
- Published in:
- 2017
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- Publication type:
- journal article
Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study.
- Published in:
- Echocardiography, 2017, v. 34, n. 2, p. 240, doi. 10.1111/echo.13444
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- Publication type:
- Article
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2196, doi. 10.1002/ajmg.a.37770
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- Publication type:
- Article
Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0301-2
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- Publication type:
- Article
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0240-y
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- Publication type:
- Article
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0227-8
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- Publication type:
- Article
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy.
- Published in:
- Molecular Therapy, 2014, v. 22, n. 11, p. 2004, doi. 10.1038/mt.2014.138
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- Publication type:
- Article
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1697, doi. 10.1002/ajmg.a.33976
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- Publication type:
- Article
Letter to the Editor.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 5/6, p. 399, doi. 10.1515/jpem.2011.046
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- Publication type:
- Article
Letter to the Editor.
- Published in:
- 2011
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- Publication type:
- Letter to the Editor
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 540, doi. 10.1002/ajmg.a.33847
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- Publication type:
- Article
Long-Term Enzyme Replacement Therapy for Pompe Disease With Recombinant Human Alpha-glucosidase Derived From Chinese Hamster Ovary Cells.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 5, p. 565, doi. 10.1177/0883073807302598
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- Publication type:
- Article
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.
- Published in:
- 2005
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- Publication type:
- journal article