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Select item 116570031.

The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review

Yasmin Polak, Laura van Dussen, E. Marleen Kemper, Frédéric M. Vaz, Femke C. C. Klouwer, Marc Engelen, Carla E. M. Hollak

Orphanet J Rare Dis. 2024; 19: 466. Published online 2024 Dec 19. doi: 10.1186/s13023-024-03449-7

PMCID:: PMC11657003

Abstract Article PDF–2.6M

Select item 116274162.

Peroxisomal dysfunction interferes with odontogenesis and leads to developmentally delayed teeth and defects in distinct dental cells in Pex11b-deficient mice

Claudia Colasante, Julia Jednakowski, Klaus-Peter Valerius, Xiaoling Li, Eveline Baumgart-Vogt

PLoS One. 2024; 19(12): e0313445. Published online 2024 Dec 9. doi: 10.1371/journal.pone.0313445

PMCID:: PMC11627416

Abstract Article PDF–9.3M

Select item 116013933.

Distinguishing PEX gene variant severity for mild, severe, and atypical peroxisome biogenesis disorders in Drosophila

Vanessa A. Gomez, Oguz Kanca, Sharayu V. Jangam, Saurabh Srivastav, Jonathan C. Andrews, Michael F. Wangler

Version 2. bioRxiv. Preprint. 2024 Nov 19. doi: 10.1101/2024.11.14.623590

PMCID:: PMC11601393

Abstract Article PDF–4.1M

Select item 116005814.

Normal very long-chain fatty acids level in a patient with peroxisome biogenesis disorders: a case report

Bita Barazandeh Shirvan, Najmeh Ahangari, Razie Rezaie, Parvaneh Layegh, Ehsan Ghayoor Karimiani, Narges Hashemi, Mehran Beiraghi Toosi

BMC Pediatr. 2024; 24: 778. Published online 2024 Nov 27. doi: 10.1186/s12887-024-05246-4

PMCID:: PMC11600581

Abstract Article PDF–1017K

Select item 115845995.

Tandem mass spectrometry of serum cholestanoic (C₂₇) acids – Typical concentration ranges and application to the study of peroxisomal biogenesis disorders

Wujuan Zhang, Monica Narvaez Rivas, Kenneth D.R. Setchell

J Mass Spectrom Adv Clin Lab. 2024 Nov; 34: 34–43. Published online 2024 Oct 28. doi: 10.1016/j.jmsacl.2024.10.005

PMCID:: PMC11584599

Abstract Article PDF–2.9M

Select item 113486806.

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing

Johanna L. Schmidt, Amy Pizzino, Jessica Nicholl, Allison Foley, Yue Wang, Jill A. Rosenfeld, Lindsey Mighion, Lora Bean, Cristina da Silva, Megan T. Cho, Rebecca Truty, John Garcia, Virginia Speare, Kirsten Blanco, Zoe Powis, Grace M. Hobson, Susan Kirwin, Bryan Krock, Hane Lee, Joshua L. Deignan, Maggie A. Westemeyer, Ryan L. Subaran, Isabelle Thiffault, Ellen A. Tsai, Terry Fang, Guy Helman, Adeline Vanderver

Am J Med Genet A. Author manuscript; available in PMC 2024 Aug 27.

Published in final edited form as: Am J Med Genet A. 2020 Aug; 182(8): 1906–1912. Published online 2020 Jun 23. doi: 10.1002/ajmg.a.61641

PMCID:: PMC11348680

Abstract Article PDF–577K

Select item 113374467.

Human Genome and Diseases:¶Cellular and molecular aspects of Zellweger syndrome and other peroxisome biogenesis disorders

U. Brosius, J. Gärtner

Cell Mol Life Sci. 2002 Jun; 59(6): 1058–1069. doi: 10.1007/s00018-002-8486-7

PMCID:: PMC11337446

Abstract Article PDF–256K

Select item 113048808.

A pH-sensitive film based on chitosan/gelatin and anthocyanin from Zingiber striolatum Diels for monitoring fish freshness

Yuyue Qin, Yurou Wang, Zhenya Tang, Kejun Chen, Zhengxuan Wang, Guiguang Cheng, Hai Chi, Thanapop Soteyome

Food Chem X. 2024 Oct 30; 23: 101639. Published online 2024 Jul 16. doi: 10.1016/j.fochx.2024.101639

PMCID:: PMC11304880

Abstract Article PDF–4.2M

Select item 112756179.

Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions

Carlos F. Mares Beltran, Christina G. Tise, Rebekah Barrick, Annie D. Niehaus, Rebecca Sponberg, Richard Chang, Gregory M. Enns, Jose E. Abdenur

Genes (Basel) 2024 Jul; 15(7): 838. Published online 2024 Jun 26. doi: 10.3390/genes15070838

PMCID:: PMC11275617

Abstract Article PDF–224K

Select item 1121819510.

Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes

Kevin Puertas-Neyra, Rosa M. Coco-Martin, Leticia A. Hernandez-Rodriguez, Dino Gobelli, Yenisey Garcia-Ferrer, Raicel Palma-Vecino, Juan José Tellería, Maria Simarro, Miguel A. de la Fuente, Ivan Fernandez-Bueno

Stem Cell Res Ther. 2024; 15: 192. Published online 2024 Jul 2. doi: 10.1186/s13287-024-03804-2

PMCID:: PMC11218195

Abstract Article PDF–6.0M

Select item 1116258311.

Pigmentary retinal dystrophy associated with peroxisome biogenesis disorder-Zellweger syndrome spectrum

Henry Zou, Liliya Sutherland, Brooke Geddie

Oxf Med Case Reports. 2024 Jun; 2024(6): omae067. Published online 2024 Jun 7. doi: 10.1093/omcr/omae067

PMCID:: PMC11162583

Abstract Article PDF–730K

Select item 1109247712.

Drosophila Models Uncover Substrate Channeling Effects on Phospholipids and Sphingolipids in Peroxisomal Biogenesis Disorders

Michael F Wangler, Yu-Hsin Chao, Mary Roth, Ruth Welti, James A. McNew

Version 1. bioRxiv. Preprint. 2024 Apr 29. doi: 10.1101/2024.04.26.591192

PMCID:: PMC11092477

Abstract Article

Select item 1095382113.

Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring

Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group

Front Neurol. 2024; 15: 1376447. Published online 2024 Mar 6. doi: 10.3389/fneur.2024.1376447

Corrects:: Front Neurol. 2022; 13: 1072256.

PMCID:: PMC10953821

Correction PDF–77K

Select item 1092451914.

Zellweger Syndrome: A Case Report

Prajwala Yogi, Chunauti Bahik, Rahul Yadav, Puja Bhattarai, Rakshya Pandey, Sunil Raja Manandar

JNMA J Nepal Med Assoc. 2024 Feb; 62(270): 155–157. Published online 2024 Feb 29. doi: 10.31729/jnma.8467

PMCID:: PMC10924519

Abstract Article PDF–553K

Select item 1091032915.

Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders

Blai Morales-Romero, José Manuel González de Aledo-Castillo, Cristina Fernández Sierra, Carmen Martínez Carreira, Carles Zaragoza Bonet, Rosa Fernández Bonifacio, Maria Antònia Caro Miró, Ana Argudo-Ramírez, Rosa María López Galera, Judit García-Villoria

J Lipid Res. 2024 Mar; 65(3): 100516. Published online 2024 Feb 4. doi: 10.1016/j.jlr.2024.100516