Works matching DE "DORFMAN-Chanarin syndrome"

Results: 27

Anaesthesia recommendations for Chanarin-Dorfman Syndrome.

Published in:

Anaesthesiologie & Intensivmedizin, 2025, v. 66, p. 1, doi. 10.19224/ai2025.S088

By:

KOÇ, Alparslan;
EREN, Nurhan

Publication type:

Article

A&I ANÄSTHESIOLOGIE & INTENSIVMEDIZIN.

Published in:: Anaesthesiologie & Intensivmedizin, 2025, v. 66, n. 5, p. S86
Publication type:: Article

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

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

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

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

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

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

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

Jordans' anomaly in Chanarin-Dorfman syndrome.

Published in:

Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2025, v. 6, n. 1, p. 118, doi. 10.1515/almed-2024-0159

By:

Sánchez-Cortés, Jorge;
Gabaldó-Barrios, Xavier

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

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

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

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

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

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

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

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

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

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

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