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CT Angiography in a Newborn Child with Hydranencephaly.
- Published in:
- Journal of Perinatology, 2004, v. 24, n. 9, p. 565, doi. 10.1038/sj.jp.7211138
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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.
- 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.
- Published in:
- 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
Failure of intrathecal allogeneic mesenchymal stem cells to halt progressive demyelination in two boys with cerebral adrenoleukodystrophy.
- Published in:
- Stem Cells Translational Medicine, 2020, v. 9, n. 5, p. 554, doi. 10.1002/sctm.19-0304
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- Publication type:
- Article
A report on state‐wide implementation of newborn screening for X‐linked Adrenoleukodystrophy.
- Published in:
- 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
Distal Xq28 microdeletions: Clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2613, doi. 10.1002/ajmg.a.36661
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- Publication type:
- Article
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3160, doi. 10.1002/ajmg.a.34331
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- Publication type:
- Article
Erratum: A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
- Published in:
- 2010
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- Publication type:
- Correction Notice
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
- Published in:
- Nature Genetics, 2010, v. 42, n. 6, p. 525, doi. 10.1038/ng.580
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- Publication type:
- Article
“Lorenzo’s Oil” Therapy for X-linked Adrenoleukodystrophy: Rationale and Current Assessment of Efficacy.
- Published in:
- Journal of Molecular Neuroscience, 2007, v. 33, n. 1, p. 105, doi. 10.1007/s12031-007-0041-4
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- Publication type:
- Article
Strength: A Relevant Link to Functional Performance in the Neurodegenerative Disease of Adrenomyeloneuropathy.
- Published in:
- Neurorehabilitation & Neural Repair, 2012, v. 26, n. 9, p. 1080, doi. 10.1177/1545968312441682
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- Publication type:
- 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.
- Published in:
- Scientific Reports, 2016, p. 24579, doi. 10.1038/srep24579
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- Publication type:
- Article
The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate.
- Published in:
- Cleft Palate Craniofacial Journal, 2013, v. 50, n. 1, p. 96, doi. 10.1597/11-132
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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
BMP4 Was Associated with NSCL/P in an Asian Population.
- Published in:
- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0035347
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- Publication type:
- Article
Elevated Cerebral Spinal Fluid Cytokine Levels in Boys with Cerebral Adrenoleukodystrophy Correlates with MRI Severity.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0032218
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- Publication type:
- Article
A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy.
- Published in:
- British Journal of Clinical Pharmacology, 2016, v. 81, n. 6, p. 1058, doi. 10.1111/bcp.12897
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- Publication type:
- Article
Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 6, p. 726, doi. 10.1038/ejhg.2009.228
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- Publication type:
- Article
Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy.
- Published in:
- 2011
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- Publication type:
- journal article
Neurocognitive Trajectory of Boys Who Received a Hematopoietic Stem Cell Transplant at an Early Stage of Childhood Cerebral Adrenoleukodystrophy.
- Published in:
- JAMA Neurology, 2017, v. 74, n. 6, p. 710, doi. 10.1001/jamaneurol.2017.0013
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- Publication type:
- Article
Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy.
- Published in:
- JAMA Neurology, 2017, v. 74, n. 5, p. 519, doi. 10.1001/jamaneurol.2016.5715
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- Publication type:
- Article
Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 12, p. 1491, doi. 10.1001/jamaneurol.2013.4598
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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
Adrenoleukodystrophy: New Approaches to a Neurodegenerative Disease.
- Published in:
- JAMA: Journal of the American Medical Association, 2005, v. 294, n. 24, p. 3131, doi. 10.1001/jama.294.24.3131
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- Publication type:
- Article
Cardio-faciocutaneous (CFC) Syndrome: Neurological Features in Two Children.
- Published in:
- Developmental Medicine & Child Neurology, 1993, v. 35, n. 8, p. 727, doi. 10.1111/j.1469-8749.1993.tb11718.x
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- Publication type:
- Article
Post‐transplant adaptive function in childhood cerebral adrenoleukodystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 3, p. 252, doi. 10.1002/acn3.526
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- Publication type:
- Article
Failure and reconstruction of a gantry crane ballasted track.
- Published in:
- Canadian Geotechnical Journal, 2001, v. 38, n. 3, p. 507, doi. 10.1139/t00-121
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- Publication type:
- Article
Track and support rehabilitation for a mine company railroad.
- Published in:
- Canadian Geotechnical Journal, 2000, v. 36, n. 2, p. 318, doi. 10.1139/t99-108
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- Publication type:
- Article
Book review: Geosynthetics Asia '97.
- Published in:
- 1999
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- Publication type:
- Book Review
Newborn Screening for Adrenoleukodystrophy.
- Published in:
- Molecular Diagnosis & Therapy, 2007, v. 11, n. 6, p. 381, doi. 10.1007/BF03256261
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- Publication type:
- Article
Diffusion tensor–based imaging reveals occult abnormalities in adrenomyeloneuropathy.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 5, p. 758
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- Publication type:
- Article
Sensorimotor outcomes in adrenomyeloneuropathy show significant disease progression.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 308, doi. 10.1002/jimd.12457
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- Publication type:
- Article
MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 728, doi. 10.1002/jimd.12356
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- Publication type:
- Article
Adrenoleukodystrophy Associated with Vitiligo and Ulcerative Colitis.
- Published in:
- European Neurology, 1999, v. 42, n. 3, p. 169, doi. 10.1159/000008093
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- Publication type:
- Article
Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 16, doi. 10.3390/ijns8010016
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- Publication type:
- Article
An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 920, doi. 10.1002/ajmg.a.33929
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- Publication type:
- Article
Metachromatic Leukodystrophy: A Case of Triplets With the Late Infantile Variant and a Systematic Review of the Literature.
- Published in:
- Journal of Child Neurology, 2010, v. 25, n. 5, p. 572, doi. 10.1177/0883073809341669
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- Publication type:
- Article
Head Circumference Standards in Neonates.
- Published in:
- Journal of Child Neurology, 1994, v. 9, n. 1, p. 63, doi. 10.1177/088307389400900116
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- Publication type:
- Article
Quantitative magnetization transfer characteristics of the human cervical spinal cord in vivo: Application to Adrenomyeloneuropathy.
- Published in:
- Magnetic Resonance in Medicine, 2009, v. 61, n. 1, p. 22, doi. 10.1002/mrm.21827
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- Publication type:
- Article
Magnetization transfer weighted imaging in the upper cervical spinal cord using cerebrospinal fluid as intersubject normalization reference (MTCSF imaging).
- Published in:
- Magnetic Resonance in Medicine, 2005, v. 54, n. 1, p. 201, doi. 10.1002/mrm.20553
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- Publication type:
- Article
Imaging cortical association tracts in the human brain using diffusion-tensor-based axonal tracking.
- Published in:
- Magnetic Resonance in Medicine, 2002, v. 47, n. 2, p. 215, doi. 10.1002/mrm.10074
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- Publication type:
- Article
Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening.
- Published in:
- Annals of Neurology, 2001, v. 49, n. 4, p. 512, doi. 10.1002/ana.101
- By:
- Publication type:
- Article
Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Genetic peroxisomal disorders: Why, when, and how to test.
- Published in:
- Annals of Neurology, 1998, v. 44, n. 5, p. 713, doi. 10.1002/ana.410440502
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- Publication type:
- Article
Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies.
- Published in:
- Annals of Neurology, 1995, v. 38, n. 3, p. 472, doi. 10.1002/ana.410380322
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- Publication type:
- Article
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.
- Published in:
- Neurogenetics, 2022, v. 23, n. 2, p. 115, doi. 10.1007/s10048-022-00684-7
- By:
- Publication type:
- Article
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations.
- Published in:
- Human Mutation, 2001, v. 18, n. 6, p. 499, doi. 10.1002/humu.1227
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- Publication type:
- Article
R166: Predictors of Airway Obstruction in Adult Sleep Apnea
- Published in:
- 2007
- By:
- Publication type:
- Abstract