Found: 9
Select item for more details and to access through your institution.
Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 12, p. 2553, doi. 10.3390/cells9122553
- By:
- Publication type:
- Article
Phenotypic variation between siblings with Metachromatic Leukodystrophy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Chitotriosidase is a biomarker for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 11, p. 1807, doi. 10.1002/acn3.51656
- By:
- Publication type:
- Article
Early clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy.
- Published in:
- Molecular & Cellular Pediatrics, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40348-020-00103-7
- By:
- Publication type:
- Article
Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR‐based urinary metabolomics.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 168, doi. 10.1002/jmd2.12273
- By:
- Publication type:
- Article
Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 80, doi. 10.1002/jmd2.12189
- By:
- Publication type:
- Article
The Mutation Matters: CSF Profiles of GCase, Sphingolipids, α‐Synuclein in PD<sub>GBA</sub>.
- Published in:
- Movement Disorders, 2021, v. 36, n. 5, p. 1216, doi. 10.1002/mds.28472
- By:
- Publication type:
- Article
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
- Published in:
- Human Mutation, 2017, v. 38, n. 11, p. 1511, doi. 10.1002/humu.23306
- By:
- Publication type:
- Article
Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 9, p. 1133, doi. 10.1001/jamaneurol.2016.2067
- By:
- Publication type:
- Article