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Peroxisomal disorder

  • Newborn Screening for X-Linked Adrenoleukodystrophy: Information for Parents

    Newborn Screening for X-Linked Adrenoleukodystrophy: Information for Parents

  • Peroxisome Biogenesis Disorders ⁎ Steven J

    Peroxisome Biogenesis Disorders ⁎ Steven J

  • Peroxisomal Disorders and Their Mouse Models Point to Essential Roles of Peroxisomes for Retinal Integrity

    Peroxisomal Disorders and Their Mouse Models Point to Essential Roles of Peroxisomes for Retinal Integrity

  • Functional Characterization of Novel Mutations in GNPAT and AGPS, Causing Rhizomelic Chondrodysplasia Punctata (RCDP) Types 2 and 3

    Functional Characterization of Novel Mutations in GNPAT and AGPS, Causing Rhizomelic Chondrodysplasia Punctata (RCDP) Types 2 and 3

  • X Linked Adrenoleukodystrophy: Clinical Presentation, Diagnosis, and Therapy

    X Linked Adrenoleukodystrophy: Clinical Presentation, Diagnosis, and Therapy

  • Amplification of Glyceronephosphate O-Acyltransferase and Recruitment of USP30 Stabilize DRP1 to Promote Hepatocarcinogenesis

    Amplification of Glyceronephosphate O-Acyltransferase and Recruitment of USP30 Stabilize DRP1 to Promote Hepatocarcinogenesis

  • Inherited Peroxisomal Disorders Involving the Nervous System

    Inherited Peroxisomal Disorders Involving the Nervous System

  • Pseudo Infantile Refsum's Disease: Catalase- Deficient Peroxisomal Particles with Partial Deficiency of Plasmalogen Synthesis and Oxidation of Fatty Acids

    Pseudo Infantile Refsum's Disease: Catalase- Deficient Peroxisomal Particles with Partial Deficiency of Plasmalogen Synthesis and Oxidation of Fatty Acids

  • Acetate Supplementation Reduces Disease Progression, Alters Cns

    Acetate Supplementation Reduces Disease Progression, Alters Cns

  • Biochimica Et Biophysica Acta 1822 (2012) 1326–1336

    Biochimica Et Biophysica Acta 1822 (2012) 1326–1336

  • Genetic Classification and Mutational Spectrum of More Than 600 Patients

    Genetic Classification and Mutational Spectrum of More Than 600 Patients

  • 06-0718 Index: Benefits

    06-0718 Index: Benefits

  • Peroxisomal Disorders in Neurology

    Peroxisomal Disorders in Neurology

  • B Disorders of Autonomic Nervous System

    B Disorders of Autonomic Nervous System

  • D-Bifunctional Protein Deficiency – a Cause of Neonatal Onset Seizures and Hypotonia

    D-Bifunctional Protein Deficiency – a Cause of Neonatal Onset Seizures and Hypotonia

  • Zellweger Syndrome: an Older Child with Progressive Foot Deformity

    Zellweger Syndrome: an Older Child with Progressive Foot Deformity

  • Refsum's Disease: a Peroxisomal Disorder Affecting Phytanic Acid A-Oxidation

    Refsum's Disease: a Peroxisomal Disorder Affecting Phytanic Acid A-Oxidation

  • A New Defect of Peroxisomal Function Involving Pristanic Acid: a Case Report B N Mclean, J Allen, S Ferdinandusse,Rjawanders

    A New Defect of Peroxisomal Function Involving Pristanic Acid: a Case Report B N Mclean, J Allen, S Ferdinandusse,Rjawanders

Top View
  • Cranial MR Imaging in Rhizomelic Chondrodysplasia Punctata
  • Peroxisomal D-Hydroxyacyl-Coa Dehydrogenase Deficiency: Resolution of the Enzyme Defect and Its Molecular Basis in Bifunctional Protein Deficiency
  • 17Β-Hydroxysteroid Dehydrogenase 4 and D-3-Hydroxyacyl
  • Genetic and Molecular Bases of Peroxisome Biogenesis Disorders
  • Rhizomelic Chondrodysplasia Punctata Deficiency of 3-Oxoacyl-Coenzyme a Thiolase in Peroxisomes and Impaired Processing of the Enzyme J
  • PEX6: an Imaging Overlap Between Peroxisomal and Lysosomal Storage Diseases
  • Peroxisome Biogenesis Disorders in the Zellweger Spectrum: an Overview of Current Diagnosis, Clinical Manifestations, and Treatment Guidelines
  • Lactic Acidosis and Mitochondrial Dysfunction in Two Children with Peroxisomal Disorders
  • Asymptomatic Retinal Dysfunction in Alpha-Methylacyl-Coa Racemase Deficiency
  • Mild Reduction of Plasmalogens Causes Rhizomelic Chondrodysplasia Punctata: Functional Characterization of a Novel Mutation
  • Peroxisomal Disorder, Rhizomelyc Chondrodysplasia Punctata Type 1, Case Report
  • Rhizomelic Chondrodysplasia Punctata with Isolated DHAP-AT
  • First Case of Peroxisomal D-Bifunctional Protein Deficiency
  • Newborn Screening for X-Linked Adrenoleukodystrophy: Information for Parents
  • MR of Zellweger Syndrome
  • Peroxisomal Disorders: the Single Peroxisomal Enzyme Deficiencies ⁎ Ronald J.A
  • Role of Α-Methylacyl-Coa Racemase in Lipid Metabolism
  • Evidence of Oxidative Stress in Peroxisomal Disorders


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