Works matching DE "DORFMAN-Chanarin syndrome"

Results: 24

Chanarin-Dorfman syndrome.
Published in:
Clinical & Experimental Dermatology, 2017, v. 42, n. 6, p. 699, doi. 10.1111/ced.13163
By:
- Demir, B.;
- Sen, A.;
- Bilik, L.;
- Deveci, U.;
- Ozercan, I. H.;
- Cicek, D.;
- Dogan, Y.
Publication type:
Article
A Two-Year-Old Child with Bilateral Symmetrical Papulosquamous Lesions.
Published in:
Indian Journal of Dermatology, 2024, v. 69, n. 2, p. 198, doi. 10.4103/ijd.ijd_347_23
By:
- Lakum, Megha P.;
- Padhiyar, Jignaben K.;
- Patel, Nayankumar H.;
- Patel, Jahnvi R.
Publication type:
Article
Could "islets of sparing" be a clue for neutral lipid storage disease with ichthyosis in patients with congenital ichthyosiform erythroderma?
Published in:
Indian Journal of Dermatology, 2022, v. 67, n. 5, p. 579, doi. 10.4103/ijd.ijd_1154_20
By:
- Demir, Filiz;
- Cayhan, Baran;
- Karaoglan, Cagla;
- Turkoglu, Zafer;
- Buyukbabani, Nesimi;
- Ayer, Mesut;
- Duz, Bugrahan;
- Uyanık, Bulent
Publication type:
Article
Chanarin-Dorfman Syndrome with Absent Jordan's Anomaly.
Published in:
2017
By:
- Arora, Sandeep;
- Roy, Shuvendu;
- Arora, Divya;
- Patil, Chetan;
- Jain, Arun Kumar
Publication type:
Case Study
Syndromic Conundrums in Diabetes: Seek and Ye Shall Find: The Dorfman-Chanarin Syndrome.
Published in:
2021
By:
- Bronson, Stephen Charles;
- Shanmugam, Alagianambi;
- Mythili, Chelliah
Publication type:
Case Study
A Rare Case of Intracranial Rosai-Dorfman Disease Mimicking Multiple Meningiomas.
Published in:
2012
By:
- Catalucci, A.;
- Lanni, G.;
- Ventura, L.;
- Ricci, A.;
- Galzio, R.J.;
- Gallucci, M.
Publication type:
Case Study
Neuro-ichthyotic syndromes: A case series.
Published in:
Journal of Pediatric Neurosciences, 2018, v. 13, n. 1, p. 34, doi. 10.4103/JPN.JPN_54_17
By:
- Incecık, Faruk;
- Herguner, Ozlem;
- Ozbek, Mehmet;
- Gungor, Serdal;
- Yılmaz, Mustafa;
- Rizzo, Wiliam;
- Mert, Gülen
Publication type:
Article
Clinical outcome of collodion baby: A retrospective review.
Published in:
Indian Journal of Dermatology, Venereology & Leprology, 2013, v. 79, n. 4, p. 555, doi. 10.4103/0378-6323.113110
By:
- Aradhya, Sacchidanand S.;
- Srinivas, Sahana M.;
- Hiremagalore, Ravi;
- Shanmukappa, Asha G.
Publication type:
Article
Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA.
Published in:
British Journal of Dermatology, 2015, v. 172, n. 6, p. 1628, doi. 10.1111/bjd.13545
By:
- Moosbrugger‐Martinz, V.;
- Jalili, A.;
- Schossig, A.S.;
- Jahn‐Bassler, K.;
- Zschocke, J.;
- Schmuth, M.;
- Stingl, G.;
- Eckl, K.M.;
- Hennies, H.C.;
- Gruber, R.
Publication type:
Article
Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome.
Published in:
Turkish Journal of Hematology, 2020, v. 37, n. 4, p. 299, doi. 10.4274/tjh.galenos.2020.2020.0242
By:
- Akyay, Arzu;
- Şahin, Filiz Demir;
- Şen, Aşkın
Publication type:
Article
Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings.
Published in:
Turkish Journal of Hematology, 2013, v. 30, n. 1, p. 72, doi. 10.4274/tjh.93798
By:
- Çamlar, Seçil Arslansoyu;
- Gençpınar, Pınar;
- Makay, Balahan;
- Yüzbaşıoğlu, Ayşe;
- Arslan, Nur;
- Dökmeci, Serap Emre;
- Anal, Özden;
- Köse, Galip
Publication type:
Article
Muscle MRI in neutral lipid storage disease (NLSD).
Published in:
Journal of Neurology, 2017, v. 264, n. 7, p. 1334, doi. 10.1007/s00415-017-8498-8
By:
- Garibaldi, Matteo;
- Tasca, Giorgio;
- Diaz-Manera, Jordi;
- Ottaviani, Pierfancesco;
- Laschena, Francesco;
- Pantoli, Donatella;
- Gerevini, Simonetta;
- Fiorillo, Chiara;
- Maggi, Lorenzo;
- Tasca, Elisabetta;
- D'amico, Adele;
- Musumeci, Olimpia;
- Toscano, Antonio;
- Bruno, Claudio;
- Massa, Roberto;
- Angelini, Corrado;
- Bertini, Enrico;
- Antonini, Giovanni;
- Pennisi, Elena
Publication type:
Article
Collodion baby: clinical manifestations and management strategies.
Published in:
2012
By:
- Gupta, Harsh Vardhan;
- Dalal, Jagjit Singh;
- Thacker, Purujit J.;
- Yadav, Sankalp;
- Padiyar, Swetha;
- Dalal, Monika;
- Vaswani, Narain Das;
- Singh, Gurmit
Publication type:
Case Study
Erratum: Chanarin-Dorfman syndrome: Clinical report and novel mutation in ABHD5 gene.
Published in:
2020
By:
- .., ..
Publication type:
Correction Notice
Chanarin-Dorfman syndrome: Clinical report and novel mutation in ABHD5 gene.
Published in:
Journal of Postgraduate Medicine, 2014, v. 60, n. 3, p. 332, doi. 10.4103/0022-3859.138826
By:
- Tamhankar, P. M.;
- Iyer, S.;
- Sanghavi, S.;
- Khopkar, U.
Publication type:
Article
Case report of harlequin ichthyosis who had similar history in two earlier siblings.
Published in:
2014
By:
- Rasul, Shazia;
- Gul, Asma;
- Tahir, Shabnum;
- Hameed, Abdul
Publication type:
Case Study
Neutral lipid storage disease-a case report.
Published in:
Journal of Pakistan Association of Dermatologists, 2014, v. 24, n. 2, p. 176
By:
- Butt, Ghazala;
- Bano, Asia;
- Suhail Pal, Sabrina;
- Khurshid, Khawar;
- Asad, Faria;
- Rani, Zahida
Publication type:
Article
Oral manifestations of lamellar ichthyosis: A rare case report and review.
Published in:
Journal of Pakistan Association of Dermatologists, 2013, v. 23, n. 1, p. 99
By:
- N. V. Rathi;
- S. M. Rawlani;
- K. R. Hotwani
Publication type:
Article
Antisense knockdown of pyruvate dehydrogenase kinase promotes the neutral lipid accumulation in the diatom Phaeodactylum tricornutum.
Published in:
Microbial Cell Factories, 2014, v. 13, n. 1, p. 1, doi. 10.1186/s12934-014-0100-9
By:
- Yu-Han Ma;
- Xiang Wang;
- Ying-Fang Niu;
- Zhi-Kai Yang;
- Meng-Han Zhang;
- Zhong-Ming Wang;
- Wei-Dong Yang;
- Jie-Sheng Liu;
- Hong-Ye Li
Publication type:
Article
Dorfman--Chanarin Syndrome with Renal Involvement: A Rare Case Report and Literature Review.
Published in:
Indian Journal of Nephrology, 2023, v. 33, n. 6, p. 472, doi. 10.4103/ijn.ijn_203_22
By:
- Agrebi, Ikram;
- Jaziri, Achraf;
- Kanoun, Houda;
- Dammak, Najla;
- Boudabous, Mouna;
- Toumi, Salma;
- Yaich, Soumaya;
- Tahri, Nabil;
- Kammoun, Arwa;
- Makni, Hafedh;
- Kammoun, Khawla;
- Boudawara, Tahya;
- Hmida, Mohamed Ben
Publication type:
Article
Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India.
Published in:
Clinical Case Reports, 2016, v. 4, n. 1, p. 87, doi. 10.1002/ccr3.462
By:
- George, Renu;
- Santhanam, Sridhar;
- Samuel, Rekha;
- Chapla, Aaron;
- Hilmarsen, Hilde Tveitan;
- Braathen, Geir Julius;
- Reinholt, Finn P.;
- Jahnsen, Frode;
- Khnykin, Denis
Publication type:
Article
Acitretin-Responsive Ichthyosis in Chanarin-Dorfman Syndrome with a Novel Mutation in the ABHD5/CGI-58 Gene.
Published in:
Pediatric Dermatology, 2014, v. 31, n. 5, p. 612, doi. 10.1111/pde.12170
By:
- Srinivasaraghavan, Rangan;
- Krishnamurthy, Sriram;
- Chandar, Rumesh;
- Cassandrini, Denise;
- Mahadevan, Subramanian;
- Bruno, Claudio;
- Santorelli, Filippo M.
Publication type:
Article
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.
Published in:
2017
By:
- Pennisi, Elena Maria;
- Arca, Marcello;
- Bertini, Enrico;
- Bruno, Claudio;
- Cassandrini, Denise;
- D'amico, Adele;
- Garibaldi, Matteo;
- Gragnani, Francesca;
- Maggi, Lorenzo;
- Massa, Roberto;
- Missaglia, Sara;
- Morandi, Lucia;
- Musumeci, Olimpia;
- Pegoraro, Elena;
- Rastelli, Emanuele;
- Santorelli, Filippo Maria;
- Tasca, Elisabetta;
- Tavian, Daniela;
- Toscano, Antonio;
- Angelini, Corrado
Publication type:
journal article
Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter.
Published in:
BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-32
By:
- Missaglia, Sara;
- Ribeiro Valadares, Eugenia;
- Moro, Laura;
- Tavares Faguntes, Eleonora Druve;
- Roque, Raquel quintão;
- Giardina, Bruno;
- Tavian, Daniela
Publication type:
Article