Results for &quot;&quot;Zellweger Syndrome&quot;&quot;[mesh_terms]

Open-label Phase 3 Continuation Study of Cholic Acid in Patients With Inborn Errors of Bile Acid Synthesis.

Kenneth D R Setchell, James E Heubi

Journal of pediatric gastroenterology and nutrition 2021;70(4):423-429

Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.

Piotr Gasperowicz, Anna Tylki-Szymańska, Rafał Płoski, Grażyna Kostrzewa, Ewa Jamroz, Elżbieta Jurkiewicz, Teresa Joanna Stradomska, Małgorzata Rydzanicz

Journal of applied genetics 2018;58(4):475-480

A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.

Peter J Wegwerth, Dimitar K Gavrilov, Nancy E Braverman, Kimiyo M Raymond, Silvia Tortorelli, Dietrich Matern, Devin Oglesbee, Perry R Loken, Stephanie D Stoway, Amy L White

Journal of inherited metabolic disease 2023;46(6):1159-1169

Cholbam® and Zellweger spectrum disorders: treatment implementation and management.

Ryan Himes, Sirish Palle, James Heubi, Erick Hernandez, Yasemen Eroglu, Zineb Ammous, Janaina Nogueira Anderson

Orphanet journal of rare diseases 2021;16(1):388

Phenotypic variability (heterogeneity) of peroxisomal disorders.

Stanley H Korman, Hanna Mandel

Advances in experimental medicine and biology 2004;544():9-30

Elevated urinary excretion of nitric oxide metabolites in young infants with Zellweger syndrome.

Andrzej Surdacki, Ertan Mayatepek, Jürgen C Frölich, Dimitrios Tsikas

Clinica chimica acta; international journal of clinical chemistry 2003;334(1-2):111-5

Peroxisome biogenesis disorders.

Steven J Steinberg, Gabriele Dodt, Gerald V Raymond, Nancy E Braverman, Ann B Moser, Hugo W Moser

Biochimica et biophysica acta 2007;1763(12):1733-48

Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails.

Ali Dursun, Safak Gucer, M S Ebberink, Sule Yigit, R J A Wanders, H R Waterham

Journal of inherited metabolic disease 2013;32 Suppl 1():S345-8

Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders.

Kenneth D R Setchell, Kevin E Bove, James E Heubi

Journal of pediatric gastroenterology and nutrition 2018;65(3):321-326

Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders.

Teresa Joanna Stradomska, Małgorzata Syczewska, Ewa Jamroz, Agata Pleskaczyńska, Piotr Kruczek, Elżbieta Ciara, Anna Tylki-Szymanska

PloS one 2020;15(9):e0238796

Normal and defective neuronal membranes: structure and function: neuronal lesions in peroxisomal disorders.

J M Powers

Journal of molecular neuroscience : MN 2002;16(2-3):285-7; discussion 317-21

Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial.

R O Jones, A B Moser, S Dharmaraj, G V Raymond, L J Speedie, L Albanna, N H Brereton, J S Sunness, A M Paker

Neurology 2010;75(9):826-30

Blenderized Tube Feeding: Health Outcomes and Review of Homemade and Commercially Prepared Products.

Katherine Bennett, Jennifer Piazza, Betsy Hjelmgren

Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition 2021;35(3):417-431

Restoring the DHA levels in the brains of Zellweger patients.

M Martinez

Journal of molecular neuroscience : MN 2002;16(2-3):309-16; discussion 317-21