Found: 34
Select item for more details and to access through your institution.
N-acetylaspartylglutamate in Canavan disease: an adverse effector?
- Published in:
- 1999
- By:
- Publication type:
- journal article
Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria.
- Published in:
- Neuroradiology, 2009, v. 51, n. 12, p. 803, doi. 10.1007/s00234-009-0574-z
- By:
- Publication type:
- Article
The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2017, v. 55, n. 3, p. 403, doi. 10.1515/cclm-2016-0340
- By:
- Publication type:
- Article
Long‐term follow‐up of a patient with neonatal form of Gaucher disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1917, doi. 10.1002/ajmg.a.63196
- By:
- Publication type:
- Article
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.
- Published in:
- Nature Medicine, 2010, v. 16, n. 8, p. 869, doi. 10.1038/nm.2188
- By:
- Publication type:
- Article
Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Assessment of nephrotoxicity of high-cumulative dose of liposomal amphotericin B in a pediatric patient who underwent allogeneic bone marrow transplantation.
- Published in:
- Pediatric Transplantation, 2006, v. 10, n. 2, p. 255, doi. 10.1111/j.1399-3046.2005.00434.x
- By:
- Publication type:
- Article
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.
- Published in:
- Biomolecules (2218-273X), 2021, v. 11, n. 7, p. 951, doi. 10.3390/biom11070951
- By:
- Publication type:
- Article
Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 9, p. 873, doi. 10.1515/jpem-2023-0210
- By:
- Publication type:
- Article
Health-related quality of life in a european sample of adults with early-treated classical PKU.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02917-w
- By:
- Publication type:
- Article
Non‐Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 2, p. 56, doi. 10.1002/jmd2.12411
- By:
- Publication type:
- Article
Bone disease in early detected Gaucher Type I disease: A case report.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 414, doi. 10.1002/jmd2.12314
- By:
- Publication type:
- Article
Galactose epimerase deficiency: lessons from the GalNet registry.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Riboflavin therapy. Biochemical heterogeneity in two adult lipid storage myopathies.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Oxygen and nitrite reduction by heme‐deficient sulphite oxidase in a patient with mild sulphite oxidase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 748, doi. 10.1002/jimd.12216
- By:
- Publication type:
- Article
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 93, doi. 10.1002/jimd.12031
- By:
- Publication type:
- Article
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 743, doi. 10.1007/s10545-017-0117-4
- By:
- Publication type:
- Article
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 741, doi. 10.1007/s10545-017-0116-5
- By:
- Publication type:
- Article
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 209, doi. 10.1007/s10545-017-0098-3
- By:
- Publication type:
- Article
Long‐term follow‐up results in enzyme replacement therapy for Pompe disease: a case report.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 389, doi. 10.1007/s10545-010-9195-2
- By:
- Publication type:
- Article
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 3, doi. 10.3390/ijns10010003
- By:
- Publication type:
- Article
Newborn Screening for Fabry Disease: Current Status of Knowledge.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 2, p. 31, doi. 10.3390/ijns9020031
- By:
- Publication type:
- Article
Macrocephaly, Subarachnoid Fluid Collection, and Glutaric Aciduria Type I.
- Published in:
- Journal of Child Neurology, 1996, v. 11, n. 5, p. 414, doi. 10.1177/088307389601100516
- By:
- Publication type:
- Article
N-Acetylaspartylglutamate Selectively Inhibits Neuronal Responses to N-Methyl- d-Aspartic Acid In Vitro.
- Published in:
- Journal of Neurochemistry, 1994, v. 63, n. 3, p. 1174, doi. 10.1046/j.1471-4159.1994.63031174.x
- By:
- Publication type:
- Article
Survey of Italian pediatricians' perspectives and knowledge about neonatal screening.
- Published in:
- Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 1, doi. 10.1186/s13052-015-0147-1
- By:
- Publication type:
- Article
Quality of Life (QoL) assessment in a cohort of patients with Phenylketonuria.
- Published in:
- BMC Public Health, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2458-14-1243
- By:
- Publication type:
- Article
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 694, doi. 10.1002/humu.20498
- By:
- Publication type:
- Article
Mast Cells Contain Large Quantities of Secretagogue-Sensitive N-Acetylaspartate.
- Published in:
- Journal of Neurochemistry, 1997, v. 69, n. 3, p. 1314, doi. 10.1046/j.1471-4159.1997.69031314.x
- By:
- Publication type:
- Article
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study.
- Published in:
- Clinical Endocrinology, 2005, v. 63, n. 1, p. 19, doi. 10.1111/j.1365-2265.2005.02292.x
- By:
- Publication type:
- Article
The Impact of a Slow-Release Large Neutral Amino Acids Supplement on Treatment Adherence in Adult Patients with Phenylketonuria.
- Published in:
- Nutrients, 2020, v. 12, n. 7, p. 2078, doi. 10.3390/nu12072078
- By:
- Publication type:
- Article
Large Neutral Amino Acid Therapy Increases Tyrosine Levels in Adult Patients with Phenylketonuria: A Long-Term Study.
- Published in:
- Nutrients, 2019, v. 11, n. 10, p. 2541, doi. 10.3390/nu11102541
- By:
- Publication type:
- Article
The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2020, v. 58, n. 12, p. 2063, doi. 10.1515/cclm-2020-0064
- By:
- Publication type:
- Article
Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2019, v. 57, n. 12, p. 1863, doi. 10.1515/cclm-2018-1301
- By:
- Publication type:
- Article