Works matching Peroxisomal disorders
Results: 519
BOLILE PEROXIZOMALE LA COPIL.
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- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2010, v. 59, n. 1, p. 16
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- Article
Adrenal Insufficiency in Peroxisomal Disorders: A Single Institution Case Series.
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- Hormone Research in Paediatrics, 2023, v. 96, n. 4, p. 439, doi. 10.1159/000529126
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- Article
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
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- Clinical Genetics, 2019, v. 95, n. 2, p. 310, doi. 10.1111/cge.13481
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- Article
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 °C.
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- Journal of Human Genetics, 2007, v. 52, n. 7, p. 599, doi. 10.1007/s10038-007-0157-y
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- Article
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.
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- Neurological Sciences, 2021, v. 42, n. 7, p. 2737, doi. 10.1007/s10072-020-04843-2
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- Article
An Example to a Rare, Multisystemic and Challenging Metabolic Disorder: Peroxisomal Disease.
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- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2021, v. 15, n. 4, p. 312, doi. 10.12956/tchd.881514
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- Article
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
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- Human Genetics, 2020, v. 139, n. 10, p. 1325, doi. 10.1007/s00439-020-02176-w
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- Article
Detection and Quantification of Free Radicals in Peroxisomal Disorders: A Comparative Study with Oxidative Stress Parameters.
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- Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 11, p. 17, doi. 10.7860/JCDR/2015/15629.6788
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- Publication type:
- Article
Biochemical Diagnosis of Peroxisomal Disorders by GC/MS: Egyptian Patients with X-linked Adrenoleukodystrophy.
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- Egyptian Journal of Hospital Medicine, 2013, v. 53, p. 960, doi. 10.12816/0001658
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- Article
Modelling Peroxisomal Disorders in Zebrafish.
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- Cells (2073-4409), 2025, v. 14, n. 2, p. 147, doi. 10.3390/cells14020147
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- Publication type:
- Article
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.
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- Clinical Genetics, 2005, v. 67, n. 2, p. 107, doi. 10.1111/j.1399-0004.2004.00329.x
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- Publication type:
- Article
Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders.
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- Journal of Biochemistry, 2019, v. 165, n. 1, p. 67, doi. 10.1093/jb/mvy085
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- Publication type:
- Article
SCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal disorders.
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- Acta Neuropathologica, 2023, v. 146, n. 2, p. 337, doi. 10.1007/s00401-023-02582-0
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- Publication type:
- Article
Two Siblings with Phenotypes Minicking Peroxisomal Disorders but with Discordant Biochemical Findings.
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- Clinical Pediatrics, 1990, v. 29, n. 8, p. 479, doi. 10.1177/000992289002900814
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- Publication type:
- Article
Peroxisomal Disorders.
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- Clinical Pediatrics, 1987, v. 26, n. 10, p. 497, doi. 10.1177/000992288702601001
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- Publication type:
- Article
Peroxisomal Disorders and Their Mouse Models Point to Essential Roles of Peroxisomes for Retinal Integrity.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 8, p. 4101, doi. 10.3390/ijms22084101
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- Publication type:
- Article
LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders.
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- Metabolites (2218-1989), 2021, v. 11, n. 6, p. 347, doi. 10.3390/metabo11060347
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- Publication type:
- Article
The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.
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- Journal of Human Genetics, 2001, v. 46, n. 5, p. 273, doi. 10.1007/s100380170078
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- Publication type:
- Article
Peroxisomal Disorders: A Review on Cerebellar Pathologies.
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- Brain Pathology, 2015, v. 25, n. 6, p. 663, doi. 10.1111/bpa.12290
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- Publication type:
- Article
Correction: Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02752-z
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- Publication type:
- Article
Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders.
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- PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0238796
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- Publication type:
- Article
Organelle disease: peroxisomal disorders.
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- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S236, doi. 10.1007/PL00014410
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- Publication type:
- Article
Diagnosis and Follow-Up of a Case of Peroxisomal Disorder With Peroxisomal Mosaicism.
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- Journal of Child Neurology, 1999, v. 14, n. 7, p. 434
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- Publication type:
- Article
Refsum's disease: a peroxisomal disorder affecting phytanic acid α-oxidation.
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- Journal of Neurochemistry, 2002, v. 80, n. 5, p. 727, doi. 10.1046/j.0022-3042.2002.00766.x
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- Publication type:
- Article
Pseudo-neonatal Adrenoleukodystrophy: A Rare Peroxisomal Disorder.
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- 2022
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- Publication type:
- Letter to the Editor
Pathogenesis of peroxisomal deficiency disorders (Zellweger syndrome) may be mediated by misregulation of the GABAergic system via the dishpan binding inhibitor.
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- BMC Pediatrics, 2004, v. 4, p. 1
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- Publication type:
- Article
Peroxisomal and mitochondrial status of two murine oligodendrocytic cell lines (158N, 158JP): potential models for the study of peroxisomal disorders associated with dysmyelination processes.
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- Journal of Neurochemistry, 2009, v. 111, n. 1, p. 119, doi. 10.1111/j.1471-4159.2009.06311.x
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- Publication type:
- 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
Ağır serebral disgenezi ve hipotoni ile karakterize peroksizomal hastalık.
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- Dicle Medical Journal / Dicle Tip Dergisi, 2015, v. 42, n. 4, p. 535, doi. 10.5798/diclemedj.0921.2015.04.0625
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- Publication type:
- Article
Sequential lipidomic, metabolomic, and proteomic analyses of serum, liver, and heart tissue specimens from peroxisomal biogenesis factor 11α knockout mice.
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- Analytical & Bioanalytical Chemistry, 2022, v. 414, n. 6, p. 2235, doi. 10.1007/s00216-021-03860-0
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- Article
Anästhesie bei einem Kind mit Verdacht auf eine peroxisomale Stoffwechselerkrankung.
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- 2017
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- Publication type:
- journal article
Determination of pipecolic acid following trimethylsilyl and trifluoroacyl derivatisation on plasma filter paper by stable isotope GC-MS for peroxisomal disorders.
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- Archives of Pharmacal Research, 2010, v. 33, n. 2, p. 317, doi. 10.1007/s12272-010-0218-1
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- Publication type:
- Article
SIRT1 activation alleviates brain microvascular endothelial dysfunction in peroxisomal disorders.
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- International Journal of Molecular Medicine, 2019, v. 44, n. 3, p. 995, doi. 10.3892/ijmm.2019.4250
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- Publication type:
- Article
SKIN HYPERPIGMENTATION: FROM ENDOCRINE DYSFUNCTION TO PEROXISOMAL DISEASE.
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- 2018
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- Publication type:
- Case Study
SKIN HYPERPIGMENTATION: FROM ENDOCRINE DYSFUNCTION TO PEROXISOMAL DISEASE.
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- Pediatric Oncall Journal, 2017, v. 14, n. 3, p. 68, doi. 10.7199/ped.oncall.2017.24
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- Publication type:
- Article
Role and Function of Peroxisomes in Neuroinflammation.
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- Cells (2073-4409), 2024, v. 13, n. 19, p. 1655, doi. 10.3390/cells13191655
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- Publication type:
- Article
Case Report on Short Limb Dwarfism - Rhizomelic Chondrodysplasia Punctata.
- Published in:
- 2015
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- Publication type:
- Case Study
Zellweger syndrome: Depiction of MRI findings in early infancy at 3.0 Tesla.
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- Neuroradiology Journal, 2017, v. 30, n. 5, p. 442, doi. 10.1177/1971400917700670
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- Publication type:
- Article
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02940-x
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- Publication type:
- Article
A novel mutation in ABCD1 gene in a Filipino patient with adult‐onset X‐linked ALD.
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- Neurology & Clinical Neuroscience, 2020, v. 8, n. 5, p. 329, doi. 10.1111/ncn3.12425
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- Publication type:
- Article
Stability of Alkyl-Dihydroxyacetonephosphate Synthase in Human Control and Peroxisomal Disorder Fibroblasts.
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- IUBMB Life, 1999, v. 48, n. 6, p. 635, doi. 10.1080/152165499306531
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- Publication type:
- Article
D-Bifunctional Protein Deficiency Diagnosis—A Challenge in Low Resource Settings: Case Report and Review of the Literature.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 9, p. 4924, doi. 10.3390/ijms25094924
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- Publication type:
- Article
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-1
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- Publication type:
- Article
Five men with arresting and relapsing cerebral adrenoleukodystrophy.
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- Journal of Neurology, 2021, v. 268, n. 3, p. 936, doi. 10.1007/s00415-020-10225-7
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- Publication type:
- Article
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.
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- Journal of Neurology, 2016, v. 263, n. 8, p. 1552, doi. 10.1007/s00415-016-8167-3
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- Publication type:
- Article
Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome.
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- Acta Medica Iranica, 2015, v. 53, n. 10, p. 656
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- Publication type:
- Article
Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes.
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- Turkish Journal of Pediatrics, 2019, v. 61, n. 2, p. 289, doi. 10.24953/turkjped.2019.02.023
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- Publication type:
- Article
A Novel Homozygous ACBD5 Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature.
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- Molecular Syndromology, 2024, v. 15, n. 3, p. 232, doi. 10.1159/000535534
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- Publication type:
- Article
Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders.
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- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 309, doi. 10.1159/000510480
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- Publication type:
- Article
Bile Acid Profiles in a Peroxisomal D-3-Hydroxyacyl-CoA Dehydratase/D-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency.
- Published in:
- Journal of Biochemistry, 1997, v. 122, n. 3, p. 655, doi. 10.1093/oxfordjournals.jbchem.a021803
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- Publication type:
- Article