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Glycogen Storage Disease Type I and Bone: Clinical and Cellular Characterization.
- Published in:
- Calcified Tissue International, 2024, v. 115, n. 5, p. 661, doi. 10.1007/s00223-024-01302-4
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- Publication type:
- Article
Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β‐Propeller Protein‐Associated Neurodegeneration.
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- Movement Disorders Clinical Practice, 2019, v. 6, n. 1, p. 51, doi. 10.1002/mdc3.12693
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- Publication type:
- Article
Dopamine infusion and hypothyroxinaemia in very low birth weight preterm infants.
- Published in:
- 2004
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- Publication type:
- journal article
Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 2, p. 327, doi. 10.3390/ijms20020327
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- Publication type:
- Article
Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
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- Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 679, doi. 10.3390/jcm9030679
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- Publication type:
- Article
Vagal Nerve Stimulation in the Treatment of Drug-Resistant Epileptic Encephalopathies in Inborn Errors of Metabolism: Report of 2 Cases.
- Published in:
- Child Neurology Open, 2015, v. 2, n. 4, p. 1, doi. 10.1177/2329048X15612432
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- Publication type:
- Article
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
- Published in:
- Cerebellum, 2021, v. 20, n. 4, p. 596, doi. 10.1007/s12311-021-01242-x
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- Publication type:
- Article
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3004, doi. 10.1002/ajmg.a.37836
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- Publication type:
- Article
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0694-6
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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
Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening.
- Published in:
- Journal of Mass Spectrometry, 2006, v. 41, n. 2, p. 263, doi. 10.1002/jms.964
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- Publication type:
- Article
Safety of anesthesia for children with mucopolysaccharidoses: A retrospective analysis of 54 patients.
- Published in:
- Pediatric Anesthesia, 2018, v. 28, n. 5, p. 436, doi. 10.1111/pan.13379
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- Publication type:
- Article
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1708, doi. 10.1038/ejhg.2015.50
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- Publication type:
- Article
Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy.
- Published in:
- Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01782-y
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- Publication type:
- Article
Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort.
- Published in:
- 2022
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- Publication type:
- journal article
Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report.
- Published in:
- Children, 2023, v. 10, n. 12, p. 1920, doi. 10.3390/children10121920
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- Publication type:
- Article
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 2115, doi. 10.1007/s10875-023-01584-7
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- Publication type:
- Article
Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2005, v. 19, n. 6, p. 863, doi. 10.1002/rcm.1861
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- Publication type:
- Article
Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy.
- Published in:
- Annals of Neurology, 2012, v. 71, n. 4, p. 520, doi. 10.1002/ana.22685
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- Publication type:
- Article
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0561-2
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- Publication type:
- Article
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0566-x
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- Publication type:
- Article
New treatments for the mucopolysaccharidoses: from pathophysiology to therapy.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0564-z
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- Publication type:
- Article
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 770, doi. 10.1002/jimd.12224
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- Publication type:
- Article
Chronic liver involvement in urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1118, doi. 10.1002/jimd.12144
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- Publication type:
- Article
Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1105, doi. 10.1002/jimd.12108
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- Publication type:
- Article
Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.657
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- Publication type:
- Article
Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.569153
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- Publication type:
- Article
Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a Boy with Short-Chain AcylCoA Dehydrogenase Deficiency.
- Published in:
- 2010
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- Publication type:
- Case Study
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
- Published in:
- Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01117-2
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- Publication type:
- Article
Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation.
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- Glycobiology, 2019, v. 29, n. 3, p. 229, doi. 10.1093/glycob/cwy112
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- Publication type:
- Article
Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome.
- Published in:
- Science Translational Medicine, 2024, v. 16, n. 745, p. 1, doi. 10.1126/scitranslmed.adi8214
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- Publication type:
- Article
Treatment Dilemma in Children with Late-Onset Pompe Disease.
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- Genes, 2023, v. 14, n. 2, p. 362, doi. 10.3390/genes14020362
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- Publication type:
- Article
Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child.
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- Genes, 2022, v. 13, n. 3, p. 442, doi. 10.3390/genes13030442
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- Publication type:
- Article
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel.
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- 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
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
Finding balance between mature and immature neutrophils: The effects of empagliflozin in GSD‐Ib.
- Published in:
- EJHaem, 2023, v. 4, n. 2, p. 551, doi. 10.1002/jha2.649
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- Publication type:
- Article
The Impact of Diet on Body Composition in a Cohort of Pediatric and Adult Patients with Maple Syrup Urine Disease.
- Published in:
- Nutrients, 2024, v. 16, n. 18, p. 3145, doi. 10.3390/nu16183145
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- Publication type:
- Article
Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice.
- Published in:
- Nutrients, 2024, v. 16, n. 1, p. 13, doi. 10.3390/nu16010013
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- Publication type:
- Article
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2021, v. 59, n. 9, p. 1516, doi. 10.1515/cclm-2021-0316
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- Publication type:
- Article
Parents' experience of the communication process of positivity at newborn screening for metabolic diseases: A qualitative study.
- Published in:
- Child: Care, Health & Development, 2023, v. 49, n. 6, p. 961, doi. 10.1111/cch.13105
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- Publication type:
- Article
Crohn-like disease long remission in a pediatric patient with glycogen storage disease type Ib treated with empagliflozin: a case report.
- Published in:
- Therapeutic Advances in Gastroenterology, 2023, p. 1, doi. 10.1177/17562848231202138
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- Publication type:
- Article
Crohn-like disease long remission in a pediatric patient with glycogen storage disease type Ib treated with empagliflozin: a case report.
- Published in:
- Therapeutic Advances in Gastroenterology, 2023, v. 16, p. 1, doi. 10.1177/17562848231202138
- By:
- Publication type:
- Article