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Identifying Metabolic Diseases That Precipitate Neonatal Seizures.
- Published in:
- Neonatal Network, 2024, v. 43, n. 3, p. 139, doi. 10.1891/NN-2023-0048
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- Publication type:
- Article
World-Renowned "Swiss" Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective.
- Published in:
- Children, 2023, v. 10, n. 10, p. 1668, doi. 10.3390/children10101668
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- Publication type:
- Article
Cystic Diseases of the Kidneys: From Bench to Bedside.
- Published in:
- Indian Journal of Nephrology, 2023, v. 33, n. 2, p. 83, doi. 10.4103/ijn.ijn_318_21
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- Publication type:
- Article
Infant Presenting With Developmental Regression and Infantile Spasms Diagnosed as Zellweger Spectrum Disorder.
- Published in:
- Journal of Neonatology, 2022, v. 36, n. 2, p. 153, doi. 10.1177/09732179221100435
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- Publication type:
- Article
An infant with blended phenotype of zellweger spectrum disorder and congenital muscular dystrophy.
- Published in:
- Annals of Indian Academy of Neurology, 2021, v. 24, n. 5, p. 759, doi. 10.4103/aian.AIAN_1108_20
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- Publication type:
- Article
Rare health conditions 34: Zellweger syndrome, Stickler syndrome, mucormycosis and Zollinger-Ellison syndrome.
- Published in:
- British Journal of Healthcare Assistants, 2020, v. 14, n. 4, p. 168, doi. 10.12968/bjha.2020.14.4.168
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- Publication type:
- Article
Adult onset seizures in learning disability.
- Published in:
- Journal of the Royal College of Physicians of Edinburgh, 2019, v. 49, n. 4, p. 309, doi. 10.4997/JRCPE.2019.413
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- Publication type:
- Article
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 310, doi. 10.1111/cge.13481
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- Publication type:
- Article
Rare health conditions 15: long QT syndrome, Wernicke-Korsakoff syndrome, Zellweger syndrome and Van der Woude syndrome.
- Published in:
- British Journal of Healthcare Assistants, 2018, v. 12, n. 8, p. 386, doi. 10.12968/bjha.2018.12.8.386
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- Publication type:
- Article
Brain MRI in a newborn with Zellweger syndrome: ADC quantitation in white matter disease.
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
Living‐donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow‐up.
- Published in:
- Pediatric Transplantation, 2018, v. 22, n. 3, p. 1, doi. 10.1111/petr.13112
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- Publication type:
- Article
Management of decompensated cirrhosis.
- Published in:
- Clinical Medicine, 2018, v. 18, p. s60, doi. 10.7861/clinmedicine.18-2-s60
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- Publication type:
- Article
Renal oxalate stones in children with Zellweger spectrum disorders.
- Published in:
- 2018
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- Publication type:
- Case Study
Development and validation of a severity scoring system for Zellweger spectrum disorders.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 3, p. 613, doi. 10.1111/cge.13130
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- Publication type:
- Article
Zellweger syndrome: Depiction of MRI findings in early infancy at 3.0 Tesla.
- Published in:
- Neuroradiology Journal, 2017, v. 30, n. 5, p. 442, doi. 10.1177/1971400917700670
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- Publication type:
- Article
Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.
- Published in:
- 2017
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- Publication type:
- journal article
Early Onset Hepatocellular Disease in an Infant With Zellweger Syndrome.
- Published in:
- Acta Medica Iranica, 2017, v. 55, n. 4, p. 268
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- Publication type:
- Article
Eye movement abnormalities in a patient with Zellweger spectrum disorder.
- Published in:
- 2016
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- Publication type:
- case study
First Japanese case of Zellweger syndrome with a mutation in PEX14.
- Published in:
- Pediatrics International, 2015, v. 57, n. 6, p. 1189, doi. 10.1111/ped.12713
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- Publication type:
- Article
Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome.
- Published in:
- Acta Medica Iranica, 2015, v. 53, n. 10, p. 656
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- Publication type:
- Article
Clinical utility gene card for: Zellweger syndrome spectrum.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1, doi. 10.1038/ejhg.2014.250
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- Publication type:
- Article
Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.
- Published in:
- Stem Cell Research & Therapy, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13287-015-0149-3
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- Publication type:
- Article
Zellweger syndrome and secondary mitochondrial myopathy.
- Published in:
- European Journal of Pediatrics, 2015, v. 174, n. 4, p. 557, doi. 10.1007/s00431-014-2431-2
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- Publication type:
- Article
Pristanic Acid Provokes Lipid, Protein, and DNA Oxidative Damage and Reduces the Antioxidant Defenses in Cerebellum of Young Rats.
- Published in:
- Cerebellum, 2014, v. 13, n. 6, p. 751, doi. 10.1007/s12311-014-0593-0
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- Publication type:
- Article
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0133-5
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- Publication type:
- Article
Peroxisome biogenesis in mammalian cells.
- Published in:
- Frontiers in Physiology, 2014, v. 5, p. 1, doi. 10.3389/fphys.2014.00307
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- Publication type:
- Article
Fetal echogenic bowel in association with Zellweger syndrome.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2014, v. 40, n. 6, p. 1799, doi. 10.1111/jog.12379
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- Publication type:
- Article
A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent.
- Published in:
- Clinical Genetics, 2014, v. 85, n. 4, p. 343, doi. 10.1111/cge.12170
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- Publication type:
- Article
Oral manifestations and dental management of a child with Zellweger syndrome.
- Published in:
- Special Care in Dentistry, 2014, v. 34, n. 1, p. 46, doi. 10.1111/scd.12003
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- Publication type:
- Article
Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-138
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- Publication type:
- Article
Contiguous ABCD1 DXS1357E deletion syndrome: Report of an autopsy case.
- Published in:
- Neuropathology, 2013, v. 33, n. 3, p. 292, doi. 10.1111/j.1440-1789.2012.01348.x
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- Publication type:
- Article
Zellweger Syndrome and Associated Brain Malformations: Report of a Novel Peroxin1 (PEX1) Mutation in a Native American Infant.
- Published in:
- 2012
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- Publication type:
- Case Study
Drosophila Carrying Pex3 or Pex16 Mutations Are Models of Zellweger Syndrome That Reflect Its Symptoms Associated with the Absence of Peroxisomes.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022984
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- Publication type:
- Article
Band heterotopia in Zellweger syndrome (cerebro-hepato-renal syndrome).
- Published in:
- 2007
- 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