Works matching Peroxisomal disorders

Results: 524

Adrenal Insufficiency in Peroxisomal Disorders: A Single Institution Case Series.

Published in:

Hormone Research in Paediatrics, 2023, v. 96, n. 4, p. 439, doi. 10.1159/000529126

By:

Gagnon, Charles;
Hurst, Anna C.E.;
Ashraf, Ambika P.

Publication type:

Article

BOLILE PEROXIZOMALE LA COPIL.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2010, v. 59, n. 1, p. 16

By:

Popescu, Valeriu;
Zamfirescu, Andrei

Publication type:

Article

The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 310, doi. 10.1111/cge.13481

By:

Alshenaifi, Jumanah;
Ewida, Nour;
Anazi, Shams;
Shamseldin, Hanan E.;
Patel, Nisha;
Maddirevula, Sateesh;
Al‐Sheddi, Tarfa;
Alomar, Rana;
Alobeid, Eman;
Ibrahim, Niema;
Hashem, Mais;
Abdulwahab, Firdous;
Jacob, Minnie;
Alhashem, Amal;
Alzaidan, Hamad I.;
Seidahmed, Mohammed Z.;
Alhashemi, Nadia;
Rawashdeh, Rifaat;
Eyaid, Wafaa;
Al‐Hassnan, Zuhair N.

Publication type:

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.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 7, p. 599, doi. 10.1007/s10038-007-0157-y

By:

Zeharia, Avraham;
Ebberink, Merel S.;
Wanders, Ronald J. A.;
Waterham, Hans R.;
Gutman, Alisa;
Nissenkorn, Andreea;
Korman, Stanley H.

Publication type:

Article

An Example to a Rare, Multisystemic and Challenging Metabolic Disorder: Peroxisomal Disease.

Published in:

Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2021, v. 15, n. 4, p. 312, doi. 10.12956/tchd.881514

By:

OLGAC, Asburce;
KASAPKARA, Cigdem Seher;
KILIC, Mustafa

Publication type:

Article

A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.

Published in:

Neurological Sciences, 2021, v. 42, n. 7, p. 2737, doi. 10.1007/s10072-020-04843-2

By:

Zaki, Maha S.;
Issa, Mahmoud Y.;
Thomas, Manal M.;
Elbendary, Hasnaa M.;
Rafat, Karima;
Al Menabawy, Nihal M.;
Selim, Laila A.;
Ismail, Samira;
Abdel-Salam, Ghada M.;
Gleeson, Joseph G.

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.

Published in:

Acta Neuropathologica, 2023, v. 146, n. 2, p. 337, doi. 10.1007/s00401-023-02582-0

By:

Ellezam, Benjamin;
Kaseka, Matsanga L.;
Nguyen, Dang Khoa;
Michaud, Jean

Publication type:

Article

Biochemical Diagnosis of Peroxisomal Disorders by GC/MS: Egyptian Patients with X-linked Adrenoleukodystrophy.

Published in:

Egyptian Journal of Hospital Medicine, 2013, v. 53, p. 960, doi. 10.12816/0001658

By:

Fateen, Ekram;
Gouda, Amr;
Ibrahim, Mona

Publication type:

Article

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

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 8, p. 4101, doi. 10.3390/ijms22084101

By:

Das, Yannick;
Swinkels, Daniëlle;
Baes, Myriam

Publication type:

Article

LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders.

Published in:

Metabolites (2218-1989), 2021, v. 11, n. 6, p. 347, doi. 10.3390/metabo11060347

By:

Klemp, Henry Gerd;
Kettwig, Matthias;
Streit, Frank;
Gärtner, Jutta;
Rosewich, Hendrik;
Krätzner, Ralph

Publication type:

Article

Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders.

Published in:

Journal of Biochemistry, 2019, v. 165, n. 1, p. 67, doi. 10.1093/jb/mvy085

By:

Subhashini, Pammi;
Krishna, Sampangi Jaya;
Rani, Ganni Usha;
Chander, Nooguri Sushma;
Reddy, Gummadi Maheshwar;
Naushad, Shaik Mohammad

Publication type:

Article

Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.

Published in:

Clinical Genetics, 2005, v. 67, n. 2, p. 107, doi. 10.1111/j.1399-0004.2004.00329.x

By:

Wanders, R. J. A.;
Waterham, H. R.

Publication type:

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).

Published in:

Human Genetics, 2020, v. 139, n. 10, p. 1325, doi. 10.1007/s00439-020-02176-w

By:

Tucker, Elena J.;
Rius, Rocio;
Jaillard, Sylvie;
Bell, Katrina;
Lamont, Phillipa J.;
Travessa, André;
Dupont, Juliette;
Sampaio, Lurdes;
Dulon, Jérôme;
Vuillaumier-Barrot, Sandrine;
Whalen, Sandra;
Isapof, Arnaud;
Stojkovic, Tanya;
Quijano-Roy, Susana;
Robevska, Gorjana;
van den Bergen, Jocelyn;
Hanna, Chloe;
Simpson, Andrea;
Ayers, Katie;
Thorburn, David R.

Publication type:

Article

Detection and Quantification of Free Radicals in Peroxisomal Disorders: A Comparative Study with Oxidative Stress Parameters.

Published in:

Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 11, p. 17, doi. 10.7860/JCDR/2015/15629.6788

By:

ABD-ELMAKSOUD, SOHAIR ABD-EL MAWGOOD;
EL-BASSYOUNI, HALA;
AFIFI, HANAN;
THOMAS, MANAL MICHEAL;
IBRAHIM, ALSHAYMAA AHMED;
SHALABY, ALIAA;
HAMID, TAMER AHMED ABDEL;
HAMID, NEHAL ABDEL;
EL-GHOBARY, HANY

Publication type:

Article

Two Siblings with Phenotypes Minicking Peroxisomal Disorders but with Discordant Biochemical Findings.

Published in:

Clinical Pediatrics, 1990, v. 29, n. 8, p. 479, doi. 10.1177/000992289002900814

By:

Pietrzyk, Jacke J.;
Turowska-Heydel, Dorota;
Klimek, Malgorzata;
Kaczmarski, Franciszek;
Kaluza, Jozef

Publication type:

Article

Peroxisomal Disorders.

Published in:

Clinical Pediatrics, 1987, v. 26, n. 10, p. 497, doi. 10.1177/000992288702601001

By:

Talwar, Dinesh;
Swaiman, Kenneth F.

Publication type:

Article

Modelling Peroxisomal Disorders in Zebrafish.

Published in:

Cells (2073-4409), 2025, v. 14, n. 2, p. 147, doi. 10.3390/cells14020147

By:

Jiang, Chenxing S.;
Schrader, Michael

Publication type:

Article

Organelle disease: peroxisomal disorders.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 15, p. S236, doi. 10.1007/PL00014410

By:

Gärtner, Jutta

Publication type:

Article

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

Published in:

PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0238796

By:

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

Publication type:

Article

The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 5, p. 273, doi. 10.1007/s100380170078

By:

Matsumoto, N.;
Tamura, S.;
Moser, A.;
Moser, H. W.;
Braverman, N.;
Suzuki, Y.;
Shimozawa, N.;
Kondo, N.;
Fujiki, Y.

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.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02752-z

By:

Zhu, Zhixing;
Genchev, Georgi Z.;
Wang, Yanmin;
Ji, Wei;
Zhang, Xiaofen;
Lu, Hui;
Sriswasdi, Sira;
Tian, Guoli

Publication type:

Article

Diagnosis and Follow-Up of a Case of Peroxisomal Disorder With Peroxisomal Mosaicism.

Published in:

Journal of Child Neurology, 1999, v. 14, n. 7, p. 434

By:

Pineda, Mercedes;
Giros, Marisa;
Roels, Frank;
Espeel, Marc;
Ruiz, Montserrat;
Moser, Ann;
Moser, Hugo W.;
Wanders, Ronald J.A.;
Pavia, Carlos;
Conill, Juan;
Aracil, Asuncion;
Amat, Luis;
Pampols, Teresa

Publication type:

Article

Peroxisomal Disorders: A Review on Cerebellar Pathologies.

Published in:

Brain Pathology, 2015, v. 25, n. 6, p. 663, doi. 10.1111/bpa.12290

By:

De Munter, Stephanie;
Verheijden, Simon;
Régal, Luc;
Baes, Myriam

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.

Published in:

Journal of Neurochemistry, 2009, v. 111, n. 1, p. 119, doi. 10.1111/j.1471-4159.2009.06311.x

By:

Baarine, Mauhamad;
Ragot, Kevin;
Genin, Emmanuelle C.;
El Hajj, Hammam;
Trompier, Doriane;
Andreoletti, Pierre;
Ghandour, M. Said;
Menetrier, Franck;
Cherkaoui-Malki, Mustapha;
Savary, Stephane;
Lizard, Gerard

Publication type:

Article

Translational and clinical pharmacology considerations in drug repurposing for X‐linked adrenoleukodystrophy—A rare peroxisomal disorder.

Published in:

British Journal of Clinical Pharmacology, 2022, v. 88, n. 6, p. 2552, doi. 10.1111/bcp.15090

By:

Tieu, Julianne H.;
Sahasrabudhe, Siddhee A.;
Orchard, Paul J.;
Cloyd, James C.;
Kartha, Reena V.

Publication type:

Article

Pseudo-neonatal Adrenoleukodystrophy: A Rare Peroxisomal Disorder.

Published in:

2022

By:

Arora, Cheshta;
Padmanabha, Hansashree;
Christopher, Rita;
Mahale, Rohan;
Bhat, Maya;
Arunachal, Gautham;
Shekhar, Ravi;
Mailankody, Pooja;
Mathuranath, P. S.

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.

Published in:

BMC Pediatrics, 2004, v. 4, p. 1

By:

Breitling, Rainer

Publication type:

Article

Refsum's disease: a peroxisomal disorder affecting phytanic acid α-oxidation.

Published in:

Journal of Neurochemistry, 2002, v. 80, n. 5, p. 727, doi. 10.1046/j.0022-3042.2002.00766.x

By:

Wierzbicki, A.S.;
Lloyd, M.D.;
Schofield, C.J.;
Feher, M.D.;
Gibberd, F.B.

Publication type:

Article

Ağır serebral disgenezi ve hipotoni ile karakterize peroksizomal hastalık.

Published in:

Dicle Medical Journal / Dicle Tip Dergisi, 2015, v. 42, n. 4, p. 535, doi. 10.5798/diclemedj.0921.2015.04.0625

By:

Yeşilbaş, Osman;
Kıhtır, Hasan Serdar;
Ersoy, Melike;
Yıldırım, Hamdi Murat;
Sungur, Müge Üstkaya;
Şevketoğlu, Esra

Publication type:

Article

Determination of pipecolic acid following trimethylsilyl and trifluoroacyl derivatisation on plasma filter paper by stable isotope GC-MS for peroxisomal disorders.

Published in:

Archives of Pharmacal Research, 2010, v. 33, n. 2, p. 317, doi. 10.1007/s12272-010-0218-1

By:

Yoon, Hye-Ran;
An, Yong-Wun

Publication type:

Article

Sequential lipidomic, metabolomic, and proteomic analyses of serum, liver, and heart tissue specimens from peroxisomal biogenesis factor 11α knockout mice.

Published in:

Analytical & Bioanalytical Chemistry, 2022, v. 414, n. 6, p. 2235, doi. 10.1007/s00216-021-03860-0

By:

Garikapati, Vannuruswamy;
Colasante, Claudia;
Baumgart-Vogt, Eveline;
Spengler, Bernhard

Publication type:

Article

Anästhesie bei einem Kind mit Verdacht auf eine peroxisomale Stoffwechselerkrankung.

Published in:

2017

By:

Englbrecht, J.;
Maas, M.;
Englbrecht, J S

Publication type:

journal article

SIRT1 activation alleviates brain microvascular endothelial dysfunction in peroxisomal disorders.

Published in:

International Journal of Molecular Medicine, 2019, v. 44, n. 3, p. 995, doi. 10.3892/ijmm.2019.4250

By:

Zhang, Yunshan;
Cui, Guiyun;
Wang, Yue;
Gong, Yi;
Wang, Yulan

Publication type:

Article

D-Bifunctional Protein Deficiency Diagnosis—A Challenge in Low Resource Settings: Case Report and Review of the Literature.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 9, p. 4924, doi. 10.3390/ijms25094924

By:

Ognean, Maria Livia;
Mutică, Ioana Bianca;
Vișa, Gabriela Adriana;
Șofariu, Ciprian Radu;
Matei, Claudiu;
Neamțu, Bogdan;
Cucerea, Manuela;
Galiș, Radu;
Cocișiu, Gabriela Ariadna;
Mătăcuță-Bogdan, Ioana Octavia

Publication type:

Article

Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome.

Published in:

Acta Medica Iranica, 2015, v. 53, n. 10, p. 656

By:

Sani, Mehri Najafi;
Ahmadi, Mitra;
Roohani, Pejman;
Rezaei, Nima

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

By:

Une, Mizuho;
Konishi, Masaki;
Suzuki, Yasuyuki;
Akaboshi, Shinjiro;
Yoshii, Michiko;
Kuramoto, Taiju;
Fujimura, Kingo

Publication type:

Article

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-1

By:

Haugarvoll, Kristoffer;
Johansson, Stefan;
Tzoulis, Charalampos;
Haukanes, Bjørn Ivar;
Bredrup, Cecilie;
Neckelmann, Gesche;
Boman, Helge;
Knappskog, Per Morten;
Bindoff, Laurence A.

Publication type:

Article

Five men with arresting and relapsing cerebral adrenoleukodystrophy.

Published in:

Journal of Neurology, 2021, v. 268, n. 3, p. 936, doi. 10.1007/s00415-020-10225-7

By:

Carlson, Aaron M.;
Huffnagel, Irene C.;
Verrips, Aad;
van der Knaap, Marjo S.;
Engelen, Marc;
Van Haren, Keith

Publication type:

Article

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.

Published in:

Journal of Neurology, 2016, v. 263, n. 8, p. 1552, doi. 10.1007/s00415-016-8167-3

By:

Renaud, Mathilde;
Guissart, Claire;
Mallaret, Martial;
Ferdinandusse, Sacha;
Cheillan, David;
Drouot, Nathalie;
Muller, Jean;
Claustres, Mireille;
Tranchant, Christine;
Anheim, Mathieu;
Koenig, Michel

Publication type:

Article

SKIN HYPERPIGMENTATION: FROM ENDOCRINE DYSFUNCTION TO PEROXISOMAL DISEASE.

Published in:

2018

By:

Ferreira, Helena;
Ferreira, Carla;
Correia, Filipa;
Lobo, Ana;
Magalhaes, Catarina;
Meireles, Carla

Publication type:

Case Study

SKIN HYPERPIGMENTATION: FROM ENDOCRINE DYSFUNCTION TO PEROXISOMAL DISEASE.

Published in:

Pediatric Oncall Journal, 2017, v. 14, n. 3, p. 68, doi. 10.7199/ped.oncall.2017.24

By:

Ferreira, Helena;
Ferreira, Carla;
Correia, Filipa;
Lobo, Ana;
Magalhaes, Catarina;
Meireles, Carla

Publication type:

Article

A Novel Homozygous ACBD5 Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature.

Published in:

Molecular Syndromology, 2024, v. 15, n. 3, p. 232, doi. 10.1159/000535534

By:

Hasturk, Berfin Ayla;
Cinar, Çisem;
Zubarioglu, Tanyel;
Tiryaki-Demir, Semra;
Cansever, Mehmet Serif;
Kiykim, Ertugrul;
Kalaycı Yigin, Aysel;
Yalcinkaya, Cengiz;
Aktuglu-Zeybek, Cigdem

Publication type:

Article

Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders.

Published in:

Molecular Syndromology, 2020, v. 11, n. 5/6, p. 309, doi. 10.1159/000510480

By:

Arora, Veronica;
Bijarnia-Mahay, Sunita;
Dubey, Sudhisha;
Saxena, Renu

Publication type:

Article

Zellweger syndrome: Depiction of MRI findings in early infancy at 3.0 Tesla.

Published in:

Neuroradiology Journal, 2017, v. 30, n. 5, p. 442, doi. 10.1177/1971400917700670

By:

Pfeifer, Cory M.;
Martinot, Carlos A.

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.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02940-x

By:

Gragnaniello, Vincenza;
Gueraldi, Daniela;
Puma, Andrea;
Commone, Anna;
Cazzorla, Chiara;
Loro, Christian;
Porcù, Elena;
Stornaiuolo, Maria;
Miglioranza, Paolo;
Salviati, Leonardo;
Wanders, Ronald J. A.;
Burlina, Alberto

Publication type:

Article

Stability of Alkyl-Dihydroxyacetonephosphate Synthase in Human Control and Peroxisomal Disorder Fibroblasts.

Published in:

IUBMB Life, 1999, v. 48, n. 6, p. 635, doi. 10.1080/152165499306531

By:

Biermann, Jan;
Gootjes, Jeannette;
Wanders, Ronald J. A.;
Bosch, Henk Van Den

Publication type:

Article

Case Report on Short Limb Dwarfism - Rhizomelic Chondrodysplasia Punctata.

Published in:

2015

By:

Thakkar, Pareshkumar A.;
Tripathi, Neha;
Aiyer, Sheila

Publication type:

Case Study

A novel mutation in ABCD1 gene in a Filipino patient with adult‐onset X‐linked ALD.

Published in:

Neurology & Clinical Neuroscience, 2020, v. 8, n. 5, p. 329, doi. 10.1111/ncn3.12425

By:

Porto, Kristine Joyce;
Matsukawa, Takashi;
Ishiura, Hiroyuki;
Mitsui, Jun;
Matic, Alexandria;
Yu, Justine Megan;
Dominguez, Jacqueline;
Damian, Ludwig;
Toda, Tatsushi;
Tsuji, Shoji

Publication type:

Article

Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes.

Published in:

Turkish Journal of Pediatrics, 2019, v. 61, n. 2, p. 289, doi. 10.24953/turkjped.2019.02.023

By:

Gündüz, Mehmet;
Ünal, Özlem;
Küçükçongar-Yavaş, Aynur;
Kasapkara, Çiğdem

Publication type:

Article

Role and Function of Peroxisomes in Neuroinflammation.

Published in:

Cells (2073-4409), 2024, v. 13, n. 19, p. 1655, doi. 10.3390/cells13191655

By:

Sarkar, Chinmoy;
Lipinski, Marta M.

Publication type:

Article