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Glycoprotein nonmetastatic melanoma protein B (GNMPB) as a novel biomarker for cerebral adrenoleukodystrophy.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-11552-7
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- Article
Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison's disease improves survival and neurological outcomes.
- Published in:
- 2011
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- Publication type:
- journal article
Cerebral adrenoleukodystrophy is associated with loss of tolerance to profilin.
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- European Journal of Immunology, 2019, v. 49, n. 6, p. 947, doi. 10.1002/eji.201848043
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- Article
Natural history of craniovertebral abnormalities in a single-center study in 54 patients with Hurler syndrome.
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- Journal of Neurosurgery: Pediatrics, 2024, v. 33, n. 6, p. 574, doi. 10.3171/2024.1.PEDS23281
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- Publication type:
- Article
Cellular Therapy in Rare Childhood Neurologic Disease: Lessons, Outcomes, and Access.
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- Journal of Child Neurology, 2018, v. 33, n. 14, p. 877, doi. 10.1177/0883073818797875
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- Article
Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues.
- Published in:
- 2016
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- Publication type:
- journal article
Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0313-y
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- Publication type:
- Article
Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 94, doi. 10.1186/s13023-015-0313-y
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- Publication type:
- Article
Differences in MPS I and MPS II Disease Manifestations.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 7888, doi. 10.3390/ijms22157888
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- Article
Failure of intrathecal allogeneic mesenchymal stem cells to halt progressive demyelination in two boys with cerebral adrenoleukodystrophy.
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- Stem Cells Translational Medicine, 2020, v. 9, n. 5, p. 554, doi. 10.1002/sctm.19-0304
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- Article
Isoprostanoid Plasma Levels Are Relevant to Cerebral Adrenoleukodystrophy Disease.
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- Life (2075-1729), 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/life12020146
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- Publication type:
- Article
α-L-iduronidase therapy for mucopolysaccharidosis type I.
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- Biologics: Targets & Therapy, 2008, v. 2, n. 4, p. 743
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- Publication type:
- Article
A report on state‐wide implementation of newborn screening for X‐linked Adrenoleukodystrophy.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1205, doi. 10.1002/ajmg.a.61171
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- Publication type:
- Article
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.
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- Journal of Bone & Mineral Research, 2013, v. 28, n. 5, p. 1041, doi. 10.1002/jbmr.1849
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- Article
In Vitro Differentiation of CD14 Cells From Osteopetrotic Subjects: Contrasting Phenotypes With TCIRG1, CLCN7, and Attachment Defects.
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- Journal of Bone & Mineral Research, 2004, v. 19, n. 8, p. 1329, doi. 10.1359/JBMR.040403
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- Publication type:
- Article
Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis.
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- Journal of Bone & Mineral Research, 2003, v. 18, n. 10, p. 1740, doi. 10.1359/jbmr.2003.18.10.1740
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- Publication type:
- Article
Haematopoietic stem cell transplantation for refractory Langerhans cell histiocytosis: outcome by intensity of conditioning.
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- British Journal of Haematology, 2015, v. 169, n. 5, p. 711, doi. 10.1111/bjh.13347
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- Article
Transplantation in inborn errors of metabolism: current considerations and future perspectives.
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- British Journal of Haematology, 2014, v. 167, n. 3, p. 293, doi. 10.1111/bjh.13059
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- Publication type:
- Article
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.
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- Nature Genetics, 2000, v. 25, n. 3, p. 343, doi. 10.1038/77131
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- Article
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group.
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- 2017
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- Publication type:
- journal article
Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H.
- Published in:
- Scientific Reports, 2016, p. 38305, doi. 10.1038/srep38305
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- Publication type:
- Article
Cerebral Spinal Fluid levels of Cytokines are elevated in Patients with Metachromatic Leukodystrophy.
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- Scientific Reports, 2016, p. 24579, doi. 10.1038/srep24579
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- Publication type:
- Article
Cerebrospinal Fluid Matrix Metalloproteinases Are Elevated in Cerebral Adrenoleukodystrophy and Correlate with MRI Severity and Neurologic Dysfunction.
- Published in:
- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0050430
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- Publication type:
- Article
Elevated Cerebral Spinal Fluid Cytokine Levels in Boys with Cerebral Adrenoleukodystrophy Correlates with MRI Severity.
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- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0032218
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- Publication type:
- Article
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.
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- 2019
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- Publication type:
- journal article
Primary Adrenal Insufficiency in a Boy with Type I Diabetes: The Importance of Considering X-linked Adrenoleukodystrophy.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 5, p. 1, doi. 10.1210/jendso/bvac039
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- Publication type:
- Article
Pericardial effusion after pediatric hematopoietic cell transplant.
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- Pediatric Transplantation, 2013, v. 17, n. 3, p. 294, doi. 10.1111/petr.12062
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- Publication type:
- Article
Rapid Induction of Cerebral Organoids From Human Induced Pluripotent Stem Cells Using a Chemically Defined Hydrogel and Defined Cell Culture Medium.
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- Stem Cells Translational Medicine, 2016, v. 5, n. 7, p. 970, doi. 10.5966/sctm.2015-0305
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- Publication type:
- Article
Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement.
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- Biomolecules (2218-273X), 2021, v. 11, n. 2, p. 189, doi. 10.3390/biom11020189
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- Article
Translational and clinical pharmacology considerations in drug repurposing for X‐linked adrenoleukodystrophy—A rare peroxisomal disorder.
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- British Journal of Clinical Pharmacology, 2022, v. 88, n. 6, p. 2552, doi. 10.1111/bcp.15090
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- Publication type:
- Article
Mechanisms of Antioxidant Induction with High-Dose N-Acetylcysteine in Childhood Cerebral Adrenoleukodystrophy.
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- 2015
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- Publication type:
- journal article
Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy.
- Published in:
- 2011
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- Publication type:
- journal article
Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 89, doi. 10.1002/jmd2.12190
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- Article
Neurocognitive Trajectory of Boys Who Received a Hematopoietic Stem Cell Transplant at an Early Stage of Childhood Cerebral Adrenoleukodystrophy.
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- JAMA Neurology, 2017, v. 74, n. 6, p. 710, doi. 10.1001/jamaneurol.2017.0013
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- Article
Post-transplant laronidase augmentation for children with Hurler syndrome: biochemical outcomes.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50595-1
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- Publication type:
- Article
Association between APOE4 and biomarkers in cerebral adrenoleukodystrophy.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-44140-3
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- Publication type:
- Article
Analysis of Glycosaminoglycans in Cerebrospinal Fluid from Patients with Mucopolysaccharidoses by Isotope-Dilution Ultra-Performance Liquid Chromatography--Tandem Mass Spectrometry.
- Published in:
- Clinical Chemistry, 2011, v. 57, n. 7, p. 1005, doi. 10.1373/clinchem.2010.161141
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- Article
Post‐transplant adaptive function in childhood cerebral adrenoleukodystrophy.
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- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 3, p. 252, doi. 10.1002/acn3.526
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- Publication type:
- Article
Hurler Syndrome Glycosaminoglycans Decrease in Cerebrospinal Fluid without Brain‐Targeted Therapy.
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- Annals of Neurology, 2023, v. 94, n. 6, p. 1182, doi. 10.1002/ana.26786
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- Article
Biochemical signatures of disease severity in multiple sulfatase deficiency.
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- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 374, doi. 10.1002/jimd.12688
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- Publication type:
- Article
Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10‐year prospective study.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 695, doi. 10.1002/jimd.12598
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- Publication type:
- Article
Differential outcomes for frontal versus posterior demyelination in childhood cerebral adrenoleukodystrophy.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1434, doi. 10.1002/jimd.12435
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- Publication type:
- Article
MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 728, doi. 10.1002/jimd.12356
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- Publication type:
- Article
Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood‐onset beta‐mannosidosis.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.712
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- Publication type:
- Article
Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 19, p. 3837, doi. 10.1093/hmg/ddx277
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- Publication type:
- Article
Population Pharmacokinetics of Unbound Mycophenolic Acid in Pediatric and Young Adult Patients Undergoing Allogeneic Hematopoietic Cell Transplantation.
- Published in:
- Journal of Clinical Pharmacology, 2012, v. 52, n. 11, p. 1665, doi. 10.1177/0091270011422814
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- Publication type:
- Article
Glutathione S-Transferase A1 Genetic Variants Reduce Busulfan Clearance in Children Undergoing Hematopoietic Cell Transplantation.
- Published in:
- Journal of Clinical Pharmacology, 2008, v. 48, n. 9, p. 1052, doi. 10.1177/0091270008321940
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- Publication type:
- Article
Comparative Effectiveness of Intracerebroventricular, Intrathecal, and Intranasal Routes of AAV9 Vector Administration for Genetic Therapy of Neurologic Disease in Murine Mucopolysaccharidosis Type I.
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- Frontiers in Molecular Neuroscience, 2021, v. 13, p. N.PAG, doi. 10.3389/fnmol.2021.618360
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- Article
Second allogeneic hematopoietic cell transplantation for graft failure: Poor outcomes for neutropenic graft failure.
- Published in:
- American Journal of Hematology, 2015, v. 90, n. 10, p. 892, doi. 10.1002/ajh.24111
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- Publication type:
- Article
N -Acetylcysteine Reverses the Mitochondrial Dysfunction Induced by Very Long-Chain Fatty Acids in Murine Oligodendrocyte Model of Adrenoleukodystrophy.
- Published in:
- Biomedicines, 2021, v. 9, n. 12, p. 1826, doi. 10.3390/biomedicines9121826
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- Publication type:
- Article