Works matching DE "ZELLWEGER Syndrome"

Results: 40

Zellweger syndrome and secondary mitochondrial myopathy.

Published in:

European Journal of Pediatrics, 2015, v. 174, n. 4, p. 557, doi. 10.1007/s00431-014-2431-2

By:

Salpietro, Vincenzo;
Phadke, Rahul;
Saggar, Anand;
Hargreaves, Iain;
Yates, Robert;
Fokoloros, Christos;
Mankad, Kshitij;
Hertecant, Jozef;
Ruggieri, Martino;
McCormick, David;
Kinali, Maria

Publication type:

Article

Comparison of Caregiver-Reported Dietary Intake Methods in Zellweger Spectrum Disorder.

Published in:

Nutrients, 2025, v. 17, n. 6, p. 989, doi. 10.3390/nu17060989

By:

Bose, Mousumi;
von Thun, Nancy L.;
Kerrihard, Adrian L.;
Lopez, Melisa L.;
Donlon, Chelsea I.;
Smolen, Alyssa K.;
Fontes, Nicole P.

Publication type:

Article

Living‐donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow‐up.

Published in:

Pediatric Transplantation, 2018, v. 22, n. 3, p. 1, doi. 10.1111/petr.13112

By:

Demaret, Tanguy;
Varma, Sharat;
Stephenne, Xavier;
Smets, Françoise;
Scheers, Isabelle;
Wanders, Ronald;
Van Maldergem, Lionel;
Reding, Raymond;
Sokal, Etienne

Publication type:

Article

Drosophila Carrying Pex3 or Pex16 Mutations Are Models of Zellweger Syndrome That Reflect Its Symptoms Associated with the Absence of Peroxisomes.

Published in:

PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022984

By:

Nakayama, Minoru;
Sato, Hiroyasu;
Okuda, Takayuki;
Fujisawa, Nao;
Kono, Nozomu;
Arai, Hiroyuki;
Suzuki, Emiko;
Umeda, Masato;
Ishikawa, Hiroyuki O.;
Matsuno, Kenji

Publication type:

Article

Early Onset Hepatocellular Disease in an Infant With Zellweger Syndrome.

Published in:

Acta Medica Iranica, 2017, v. 55, n. 4, p. 268

By:

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

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

Brain MRI in a newborn with Zellweger syndrome: ADC quantitation in white matter disease.

Published in:

2018

By:

Quintas-Neves, Miguel;
Carvalho, Raquel;
Soares-Fernandes, João Paulo

Publication type:

Letter to the Editor

Pristanic Acid Provokes Lipid, Protein, and DNA Oxidative Damage and Reduces the Antioxidant Defenses in Cerebellum of Young Rats.

Published in:

Cerebellum, 2014, v. 13, n. 6, p. 751, doi. 10.1007/s12311-014-0593-0

By:

Busanello, Estela;
Lobato, Vannessa;
Zanatta, Ângela;
Borges, Clarissa;
Tonin, Anelise;
Viegas, Carolina;
Manfredini, Vanusa;
Ribeiro, César;
Vargas, Carmen;
Souza, Diogo;
Wajner, Moacir

Publication type:

Article

Contiguous ABCD1 DXS1357E deletion syndrome: Report of an autopsy case.

Published in:

Neuropathology, 2013, v. 33, n. 3, p. 292, doi. 10.1111/j.1440-1789.2012.01348.x

By:

Iwasa, Mitsuaki;
Yamagata, Takanori;
Mizuguchi, Masashi;
Itoh, Masayuki;
Matsumoto, Ayumi;
Hironaka, Mitsugu;
Honda, Ayako;
Momoi, Mariko Y.;
Shimozawa, Nobuyuki

Publication type:

Article

Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease).

Published in:

Ultrastructural Pathology, 2018, v. 42, n. 3, p. 220, doi. 10.1080/01913123.2018.1440272

By:

Warren, Mikako;
Mierau, Gary;
Wartchow, Eric P.;
Shimada, Hiroyuki;
Yano, Shoji

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

Development and validation of a severity scoring system for Zellweger spectrum disorders.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 613, doi. 10.1111/cge.13130

By:

Klouwer, F. C. C.;
Meester‐delver, A.;
Vaz, F. M.;
Waterham, H. R.;
Hennekam, R. C. M.;
Poll‐the, B. T.

Publication type:

Article

A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 343, doi. 10.1111/cge.12170

By:

Fedick, A.;
Jalas, C.;
Treff, N.R.

Publication type:

Article

Identifying Metabolic Diseases That Precipitate Neonatal Seizures.

Published in:

Neonatal Network, 2024, v. 43, n. 3, p. 139, doi. 10.1891/NN-2023-0048

By:

Judy, Rebecca L.;
Reynolds, Joanna L.;
Jnah, Amy J.

Publication type:

Article

Band heterotopia in Zellweger syndrome (cerebro-hepato-renal syndrome).

Published in:

2007

By:

Young, Sandra;
Rabi, Yacov;
Lodha, Abhay K.

Publication type:

journal article

First Japanese case of Zellweger syndrome with a mutation in PEX14.

Published in:

Pediatrics International, 2015, v. 57, n. 6, p. 1189, doi. 10.1111/ped.12713

By:

Komatsuzaki, Shoko;
Ogawa, Eishin;
Shimozawa, Nobuyuki;
Sakamoto, Osamu;
Haginoya, Kazuhiro;
Uematsu, Mitsugu;
Hasegawa, Yuki;
Matsubara, Yoichi;
Ohura, Toshihiro

Publication type:

Article

Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.

Published in:

2017

By:

Blomqvist, Maria;
Ahlberg, Karin;
Lindgren, Julia;
Ferdinandusse, Sacha;
Asin-Cayuela, Jorge

Publication type:

journal article

High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0133-5

By:

Berendse, Kevin;
Engelen, Marc;
Linthorst, Gabor E.;
van Trotsenburg, A. S. Paul;
Poll-The, Bwee Tien

Publication type:

Article

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-138

By:

Berendse, Kevin;
Ebberink, Merel S.;
IJlst, Lodewijk;
Poll-The, Bwee Tien;
A. Wanders, Ronald J.;
Waterham, Hans R.

Publication type:

Article

Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls.

Published in:

1999

By:

Moser, Ann B.;
Kreiter, Nancy;
Bezman, Lena;
Lu, Shou-En;
Raymond, Gerald V.;
Naidu, Sakkubai;
Moser, Hugo W.;
Moser, A B;
Kreiter, N;
Bezman, L;
Lu, S;
Raymond, G V;
Naidu, S;
Moser, H W

Publication type:

journal article

Renal oxalate stones in children with Zellweger spectrum disorders.

Published in:

2018

By:

ALHAZMI, HAMDAN HAMMAD

Publication type:

Case Study

Clinical utility gene card for: Zellweger syndrome spectrum.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1, doi. 10.1038/ejhg.2014.250

By:

Rosewich, Hendrik;
Waterham, Hans;
Poll-The, Bwee Tien;
Ohlenbusch, Andreas;
Gärtner, Jutta

Publication type:

Article

Rare health conditions 34: Zellweger syndrome, Stickler syndrome, mucormycosis and Zollinger-Ellison syndrome.

Published in:

British Journal of Healthcare Assistants, 2020, v. 14, n. 4, p. 168, doi. 10.12968/bjha.2020.14.4.168

By:

Barber, Chris

Publication type:

Article

Rare health conditions 15: long QT syndrome, Wernicke-Korsakoff syndrome, Zellweger syndrome and Van der Woude syndrome.

Published in:

British Journal of Healthcare Assistants, 2018, v. 12, n. 8, p. 386, doi. 10.12968/bjha.2018.12.8.386

By:

Barber, Chris

Publication type:

Article

Cystic Diseases of the Kidneys: From Bench to Bedside.

Published in:

Indian Journal of Nephrology, 2023, v. 33, n. 2, p. 83, doi. 10.4103/ijn.ijn_318_21

By:

Raina, Rupesh;
Lomanta, Francis;
Singh, Siddhartha;
Anand, Alisha;
Kalra, Riti;
Enukonda, Vignasiddh;
Barat, Oren;
Pandher, Davinder;
Sethi, Sidharth K.

Publication type:

Article

Zellweger Syndrome and Associated Brain Malformations: Report of a Novel Peroxin1 (PEX1) Mutation in a Native American Infant.

Published in:

2012

By:

Mohebbi, Mohammad R.;
Rush, Eric T.;
Rizzo, William B.;
Banagale, Raul C.

Publication type:

Case Study

World-Renowned "Swiss" Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective.

Published in:

Children, 2023, v. 10, n. 10, p. 1668, doi. 10.3390/children10101668

By:

Huisman, Laura M.;
Huisman, Thierry A. G. M.

Publication type:

Article

Peroxisome biogenesis in mammalian cells.

Published in:

Frontiers in Physiology, 2014, v. 5, p. 1, doi. 10.3389/fphys.2014.00307

By:

Yukio Fujiki;
Kanji Okumoto;
Satoru Mukai;
Masanori Honsho;
Shigehiko Tamura

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

Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.

Published in:

Stem Cell Research & Therapy, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13287-015-0149-3

By:

Xiao-Ming Wang;
Wing Yan Yik;
Peilin Zhang;
Wange Lu;
Ning Huang;
Bo Ram Kim;
Shibata, Darryl;
Zitting, Madison;
Chow, Robert H.;
Moser, Ann B.;
Steinberg, Steven J.;
Hacia, Joseph G.

Publication type:

Article

Oral manifestations and dental management of a child with Zellweger syndrome.

Published in:

Special Care in Dentistry, 2014, v. 34, n. 1, p. 46, doi. 10.1111/scd.12003

By:

Lertsirivorakul, Jinda;
Wongswadiwat, Malinee;
Treesuwan, Panta

Publication type:

Article

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

Published in:

2020

By:

Heubi, James E.;
Setchell, Kenneth D. R.

Publication type:

journal article

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

Published in:

2018

By:

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

Publication type:

journal article

Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution.

Published in:

2018

By:

Klouwer, Femke C. C.;
Braverman, Nancy E.;
Verkade, Henkjan J.;
Berendse, Kevin;
Waterham, Hans R.;
Wanders, Ronald J. A.;
Poll-The, Bwee Tien;
Koot, Bart G. P.

Publication type:

journal article

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

Published in:

2017

By:

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

Publication type:

journal article

An infant with blended phenotype of zellweger spectrum disorder and congenital muscular dystrophy.

Published in:

Annals of Indian Academy of Neurology, 2021, v. 24, n. 5, p. 759, doi. 10.4103/aian.AIAN_1108_20

By:

Gupta, Priyanka;
Anne, Rajendra;
Deshabhotla, Sai;
Nerakh, Gayatri

Publication type:

Article

Fetal echogenic bowel in association with Zellweger syndrome.

Published in:

Journal of Obstetrics & Gynaecology Research, 2014, v. 40, n. 6, p. 1799, doi. 10.1111/jog.12379

By:

Aydemir, Ozge;
Kavurt, Sumru;
Esin, Sertaç;
Kandemir, Omer;
Bas, Ahmet Yagmur;
Demirel, Nihal

Publication type:

Article

Eye movement abnormalities in a patient with Zellweger spectrum disorder.

Published in:

2016

By:

Rosini, F.;
Vinciguerra, C.;
Mignarri, A.;
Di Giovanni, M.;
Federico, A.;
Rufa, A.

Publication type:

Case Study

Infant Presenting With Developmental Regression and Infantile Spasms Diagnosed as Zellweger Spectrum Disorder.

Published in:

Journal of Neonatology, 2022, v. 36, n. 2, p. 153, doi. 10.1177/09732179221100435

By:

Chhabra, Kusumita;
Balakrishnan, Umamaheshwari;
Amboiram, Prakash;
Jalan, Anil

Publication type:

Article

Adult onset seizures in learning disability.

Published in:

Journal of the Royal College of Physicians of Edinburgh, 2019, v. 49, n. 4, p. 309, doi. 10.4997/JRCPE.2019.413

By:

Ali, Rehiana;
Larner, Andrew J.

Publication type:

Article