Found: 48
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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
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- Publication type:
- Article
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy—a Delphi consensus.
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- Internal & Emergency Medicine, 2023, v. 18, n. 3, p. 831, doi. 10.1007/s11739-023-03238-3
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- Publication type:
- Article
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1 -Related Myopathies.
- Published in:
- Genes, 2023, v. 14, n. 2, p. 298, doi. 10.3390/genes14020298
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- Publication type:
- Article
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening.
- Published in:
- European Journal of Pediatrics, 2022, v. 181, n. 7, p. 2821, doi. 10.1007/s00431-022-04470-3
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- Publication type:
- Article
Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study.
- Published in:
- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.869842
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- Publication type:
- Article
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
Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation.
- Published in:
- Cellular & Molecular Life Sciences, 2022, v. 79, n. 3, p. 1, doi. 10.1007/s00018-022-04180-x
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- Publication type:
- Article
Bi‐allelic variants in MDH2: Expanding the clinical phenotype.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 2, p. 260, doi. 10.1111/cge.14088
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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
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
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01001-1
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- Publication type:
- Article
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 10, p. 2063, doi. 10.3390/jcm10102063
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- Publication type:
- Article
Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus.
- Published in:
- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-00954-4
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- Publication type:
- Article
SARS-CoV-2 infection in a patient with propionic acidemia.
- Published in:
- 2020
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- Publication type:
- case study
Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders.
- Published in:
- 2020
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- Publication type:
- journal article
Advances in Stem Cell Modeling of Dystrophin-Associated Disease: Implications for the Wider World of Dilated Cardiomyopathy.
- Published in:
- Frontiers in Physiology, 2020, v. 11, p. 1, doi. 10.3389/fphys.2020.00368
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- Publication type:
- Article
Correction to: Newborn screening in mucopolysaccharidoses.
- Published in:
- 2019
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- Publication type:
- Correction Notice
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.
- Published in:
- 2019
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- Publication type:
- journal article
Newborn screening in mucopolysaccharidoses.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0552-3
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- Publication type:
- Article
Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 1, p. N.PAG, doi. 10.1186/s13052-018-0530-9
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- Publication type:
- Article
Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias.
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- 2018
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- Publication type:
- journal 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
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 2, p. 345, doi. 10.3390/ijms19020345
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- Publication type:
- Article
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4257, doi. 10.1093/hmg/ddx314
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- Publication type:
- 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
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study.
- Published in:
- 2016
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- Publication type:
- journal article
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
- Published in:
- 2016
- By:
- Publication type:
- letter
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations.
- Published in:
- Human Mutation, 2015, v. 36, n. 3, p. 357, doi. 10.1002/humu.22751
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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
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0105-9
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- Publication type:
- Article
Mitochondrial Encephalomyopathy Due to a Novel Mutation in ACAD9.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 9, p. 1177, doi. 10.1001/jamaneurol.2013.3197
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- Publication type:
- Article
Galactosialidosis: review and analysis of CTSA gene mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-114
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- Publication type:
- Article
New clinical and molecular insights on Barth syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-27
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- Publication type:
- Article
New clinical and molecular insights on Barth syndrome.
- Published in:
- 2013
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- Publication type:
- journal article
Galactosialidosis: review and analysis of CTSA gene mutations.
- Published in:
- 2013
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- Publication type:
- journal article
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1311, doi. 10.1038/ejhg.2008.109
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- Publication type:
- Article
The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2008, v. 22, n. 6, p. 812, doi. 10.1002/rcm.3428
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- Publication type:
- Article
Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn.
- Published in:
- 2008
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- Publication type:
- Report
Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date?
- Published in:
- 2008
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- Publication type:
- Report
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 204, doi. 10.1002/humu.9475
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- Publication type:
- 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
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 12, p. 1117, doi. 10.1002/pd.1291
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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
Role of β-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with G<sub>M1</sub>-gangliosidosis.
- Published in:
- Human Mutation, 2005, v. 25, n. 3, p. 285, doi. 10.1002/humu.20147
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- Publication type:
- Article
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 576, doi. 10.1002/humu.20040
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- Publication type:
- Article
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2003, v. 17, n. 23, p. 2688, doi. 10.1002/rcm.1248
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- Publication type:
- Article
Severe prognosis in a large family with hypokalemic periodic paralysis.
- Published in:
- Muscle & Nerve, 2003, v. 27, n. 2, p. 165, doi. 10.1002/mus.10298
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- Publication type:
- Article
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 301, doi. 10.1038/sj.ejhg.5200286
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- Publication type:
- Article