Found: 60
Select item for more details and to access through your institution.
Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic.
- Published in:
- Healthcare (2227-9032), 2023, v. 11, n. 8, p. 1176, doi. 10.3390/healthcare11081176
- By:
- Publication type:
- Article
Mucopolysaccharidosis VI: the Italian experience.
- Published in:
- 2009
- By:
- Publication type:
- journal article
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 5, p. 327, doi. 10.1159/000516606
- By:
- Publication type:
- Article
Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 6, p. 332, doi. 10.1159/000504210
- By:
- Publication type:
- Article
Remote Ultrasound Scan Procedures with Medical Robots: Towards New Perspectives between Medicine and Engineering.
- Published in:
- Applied Bionics & Biomechanics, 2022, p. 1, doi. 10.1155/2022/1072642
- By:
- 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
- By:
- Publication type:
- Article
Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0129-1
- By:
- Publication type:
- Article
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset.
- Published in:
- Journal of Genetics, 2020, v. 99, n. 1, p. 1, doi. 10.1007/s12041-020-01198-7
- By:
- Publication type:
- Article
Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5538, doi. 10.3390/ijms22115538
- By:
- Publication type:
- Article
COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 9, p. 2716, doi. 10.3390/jcm9092716
- By:
- 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.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 679, doi. 10.3390/jcm9030679
- By:
- Publication type:
- Article
ANTI-MOG ASSOCIATED ENCEPHALITIS: WHEN STEROID THERAPY IS NOT ENOUGH.
- Published in:
- Euromediterranean Biomedical Journal, 2022, v. 17, p. 21, doi. 10.3269/1970-5492.2022.17.6
- By:
- 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
- By:
- Publication type:
- Article
Arterial ischemic stroke (AIS) in childhood: clinical report from a single control center.
- Published in:
- Child's Nervous System, 2019, v. 35, n. 2, p. 283, doi. 10.1007/s00381-018-4017-1
- By:
- Publication type:
- Article
Subgaleal hematoma in a child with Sturge–Weber syndrome: to prevent stroke-like episodes, is treatment with aspirin advisable?
- Published in:
- Child's Nervous System, 2008, v. 24, n. 12, p. 1479, doi. 10.1007/s00381-008-0662-0
- By:
- Publication type:
- Article
Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data.
- Published in:
- American Journal of Hematology, 2021, v. 96, n. 5, p. 545, doi. 10.1002/ajh.26131
- By:
- Publication type:
- Article
Quantitative analysis of upright standing in adults with late-onset Pompe disease.
- Published in:
- Scientific Reports, 2016, p. 37040, doi. 10.1038/srep37040
- By:
- Publication type:
- Article
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.705423
- By:
- Publication type:
- Article
CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2016, v. 9, n. 4, p. 423, doi. 10.1002/aur.1541
- By:
- Publication type:
- Article
Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Plasma Neurofilament Light (NfL) in Patients Affected by Niemann–Pick Type C Disease (NPCD).
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 20, p. 4796, doi. 10.3390/jcm10204796
- By:
- Publication type:
- Article
Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 7, p. 451, doi. 10.3390/brainsci10070451
- By:
- Publication type:
- Article
Adjunct Diagnostic Value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-Related Cervical Myelopathy: A Pilot Study.
- Published in:
- Brain Sciences (2076-3425), 2019, v. 9, n. 8, p. 200, doi. 10.3390/brainsci9080200
- By:
- Publication type:
- Article
Autism and Phenylketonuria.
- Published in:
- Journal of Autism & Developmental Disorders, 2003, v. 33, n. 2, p. 201, doi. 10.1023/A:1022999712639
- By:
- Publication type:
- Article
Brief Report: Autistic Behaviors Among Children with Fragile X or Rett Syndrome: Implications for the Classification of Pervasive Developmental Disorder.
- Published in:
- Journal of Autism & Developmental Disorders, 1998, v. 28, n. 4, p. 321, doi. 10.1023/A:1026012703449
- By:
- Publication type:
- Article
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03027-x
- By:
- Publication type:
- Article
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02797-0
- By:
- Publication type:
- Article
Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01062-6
- By:
- Publication type:
- Article
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-53995-5
- By:
- Publication type:
- Article
Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease.
- Published in:
- Biotechnology & Applied Biochemistry, 2008, v. 049, n. 3, p. 219
- By:
- Publication type:
- Article
Malformations of Cortical Development, Cognitive Involvement and Epilepsy: A Single Institution Experience in 19 Young Patients.
- Published in:
- Children, 2021, v. 8, n. 8, p. 1, doi. 10.3390/children8080637
- By:
- Publication type:
- Article
COG6‐CDG: Novel variants and novel malformation.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 5/6, p. 165, doi. 10.1002/bdr2.1981
- By:
- Publication type:
- Article
Case report: Incidence and prognostic value of brain MRI lesions and elevated cerebrospinal fluid protein in children with Guillain-Barré syndrome.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.885897
- By:
- Publication type:
- Article
The GALA project: practical recommendations for the use of migalastat in clinical practice on the basis of a structured survey among Italian experts.
- Published in:
- 2020
- By:
- Publication type:
- journal article
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
- Published in:
- Annals of Neurology, 2012, v. 72, n. 4, p. 550, doi. 10.1002/ana.23632
- By:
- Publication type:
- Article
Progressive cavitating leukoencephalopathy: A novel childhood disease.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 6, p. 929
- By:
- Publication type:
- Article
Mucopolysaccharidoses: early diagnostic signs in infants and children.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0550-5
- By:
- Publication type:
- Article
ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 969, doi. 10.1002/jimd.12527
- By:
- Publication type:
- Article
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 148, doi. 10.1002/jimd.12286
- By:
- Publication type:
- Article
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 5, doi. 10.1002/jimd.12024
- By:
- Publication type:
- Article
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 763, doi. 10.1007/s10545-011-9317-5
- By:
- Publication type:
- Article
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 727, doi. 10.1007/s10545-010-9201-8
- By:
- Publication type:
- Article
Multiple Sclerosis with Onset at 35 Months of Age.
- Published in:
- Clinical Pediatrics, 1996, v. 35, n. 4, p. 209, doi. 10.1177/000992289603500406
- By:
- Publication type:
- Article
HILIC-UPLC-MS for high throughput and isomeric N-glycan separation and characterization in Congenital Disorders Glycosylation and human diseases.
- Published in:
- Glycoconjugate Journal, 2021, v. 38, n. 2, p. 201, doi. 10.1007/s10719-020-09947-7
- By:
- Publication type:
- Article
ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
- Published in:
- Glycoconjugate Journal, 2019, v. 36, n. 6, p. 461, doi. 10.1007/s10719-019-09890-2
- By:
- Publication type:
- Article
Multiseptate Gallbladder in a Child: A Possible Cause of Poor Growth?
- Published in:
- 2019
- By:
- Publication type:
- journal article
Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing.
- Published in:
- Biomedicines, 2023, v. 11, n. 7, p. 1899, doi. 10.3390/biomedicines11071899
- By:
- Publication type:
- Article