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ALLMedicine™ Peroxisomal Disorders Center

Research & Reviews  55 results

Peroxisomal Disorders
https://www.merckmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorders/peroxisomal-disorders

Dec 1st, 2021 - Peroxisomal disorders are a group of hereditary metabolic disorders Overview of Hereditary Metabolic Disorders Hereditary metabolic disorders are inherited genetic conditions that cause metabolism problems. Heredity is the passing of genes from on...

Peroxisomal Disorders
https://www.merckmanuals.com/en-pr/home/children-s-health-issues/hereditary-metabolic-disorders/peroxisomal-disorders

Dec 1st, 2021 - Peroxisomal disorders are a group of hereditary metabolic disorders Overview of Hereditary Metabolic Disorders Hereditary metabolic disorders are inherited genetic conditions that cause metabolism problems. Heredity is the passing of genes from on...

Newly defined peroxisomal disease with novel ACBD5 mutation.
https://doi.org/10.1515/jpem-2020-0352
Journal of Pediatric Endocrinology & Metabolism : JPEM; Gorukmez O, Havalı C et. al.

Oct 21st, 2021 - Peroxisomal disorders are a heterogeneous group of diseases caused by mutations in a large number of genes. One of the genetic disorders known to cause this situation is ACBD5 (Acyl-CoA binding-domain-containing-5) gene mutations that have been de...

Clinical and Neuroimaging Features of Peroxisomal Disorders.
https://doi.org/10.1055/s-0041-1732312
Neuropediatrics Herman I, Calame DG

Jul 24th, 2021 - Clinical and Neuroimaging Features of Peroxisomal Disorders.|2021|Herman I,Calame DG,|diagnostic imaging,

Imaging in X-Linked Adrenoleukodystrophy.
https://doi.org/10.1055/s-0041-1730937
Neuropediatrics van de Stadt SIW, Huffnagel IC et. al.

Jul 1st, 2021 - Magnetic resonance imaging (MRI) is the gold standard for the detection of cerebral lesions in X-linked adrenoleukodystrophy (ALD). ALD is one of the most common peroxisomal disorders and is characterized by a defect in degradation of very long ch...

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Drugs  2 results see all →

Clinicaltrials.gov  1 results

Study of Bile Acids in Patients With Peroxisomal Disorders
https://clinicaltrials.gov/ct2/show/NCT00004442

Mar 25th, 2015 - PROTOCOL OUTLINE: Patients receive oral cholic acid and oral chenodeoxycholic acid on day 1. On day 4, patients receive oral cholic and ursodeoxycholic acids. Patients are assessed at 3 and 6 months for liver function response, neurologic status, ...

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News  5 results

Drug Trials Snapshots
http://www.fda.gov/drugs/drug-approvals-and-databases/drug-trials-snapshots

Contact Us at Snapshots@fda.hhs.gov  Download 2020 Drug Trials Snapshots Summary Report (PDF - 2 MB)  Download 2015 - 2019 Drug Trials Snapshots Summary Report (PDF - 1 MB) Previous Summary Reports  Download 2019 Drug Trials Snapshots Summary Repo...

Novel Drug Approvals for 2015
http://www.fda.gov/drugs/new-drugs-fda-cders-new-molecular-entities-and-new-therapeutic-biological-products/novel-drug-approvals-2015

2015 Novel Drugs Summary (PDF - 16MB) Text Version Updated as of 2/5/16, corrects images on page 11 Innovation drives progress. When it comes to innovation in the development of new drugs and therapeutic biological products, FDA’s Center for Drug ...

NORD to Develop Natural History Studies With 20 Rare Disease Patient Organizations
https://www.mdedge.com/clinicianreviews/article/108851/nord-develop-natural-history-studies-20-rare-disease-patient

May 13th, 2016 - The National Organization for Rare Disorders (NORD) will develop longitudinal natural history studies with 20 rare disease patient organizations to advance understanding of rare diseases and support research. The project is supported in part by a.

New Guideline Addresses Diagnosing, Managing NAFLD
https://www.mdedge.com/familymedicine/article/54618/lipid-disorders/new-guideline-addresses-diagnosing-managing-nafld/page/0/1
Clinical Endocrinology News;

Jun 1st, 2012 - • Very young or normal-weight children found to have fatty liver should be assessed for monogenic causes of chronic liver disease (such as fatty acid oxidation defects, lysosomal storage diseases, and peroxisomal disorders), as well as the potenti.

Radial Contrast Enhancement on Brain Magnetic Resonance Imaging Diagnostic of Primary Angiitis of the Central Nervous System
https://www.medscape.com/viewarticle/820623

Abstract and Introduction Abstract Introduction Primary angiitis of the central nervous system is a rare disease of unclear etiology. There is no single test diagnostic of primary angiitis of the central nervous system. We report an unusual patter...

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Patient Education  1 results see all →