Genetics of Sjögren Larsson Syndrome and a Case Report from India

2002 ◽  
Vol 2 (4) ◽  
pp. 223-232
Author(s):  
Arvind Rup Singh ◽  
Jai Rup Singh ◽  
Harshinder Kaur ◽  
Gurpal Singh Sachdeva ◽  
Anupam Kaur ◽  
...  
Keyword(s):  
Case Report ◽  
Larsson Syndrome

scholarly journals Sjogern - Larsson Syndrome: A Case Report

2017 ◽  
Vol 39 (2) ◽  
pp. 102-104
Author(s):  
Rashidul Karim ◽  
Humayra Sultana ◽  
Md Sultan Uddin
Keyword(s):  
Case Report ◽  
Child Health ◽  
Larsson Syndrome

Abstract not availableBangladesh J Child Health 2015; VOL 39 (2) :102-104

scholarly journals Sjögren-Larsson syndrome in two brothers: a case report

Cases Journal ◽  
2009 ◽  
Vol 2 (1) ◽  
pp. 8434 ◽  
Author(s):  
Farid Rezaei Moghaddam ◽  
Farid Safar ◽  
Mahsa Asheghan ◽  
Zahra Reza Soltani ◽  
Fatemeh Dehghani Zade
Keyword(s):  
Case Report ◽  
Larsson Syndrome

scholarly journals SJOGREN-LARSSON SYNDROME

2006 ◽  
Vol 13 (02) ◽  
pp. 317-319
Author(s):  
FAWAD MUZAFFAR ◽  
MAJID SUHAIL
Keyword(s):  
Case Report ◽  
Fatty Acid ◽  
Essential Fatty Acid ◽  
Fatty Acid Metabolism ◽  
Acid Metabolism ◽  
Spastic Diplegia ◽  
Essential Fatty Acid Metabolism ◽  
Congenital Ichthyosis ◽  
Larsson Syndrome

We present a case report of two brothers suffering from Sjogren-Larsson syndrome, who were bornto consanguineous parents. Sjogren-Larsson syndrome is one of the congenital icthyoses with an autosomal recessiveinheritance . It is characterized by the combination of 1 congenital ichthyosis with spastic diplegia, moderate mentalretardation and retinopathy.2,3,16. Defects in essential fatty acid metabolism have been attributed to as the cause4,8,13,15.

scholarly journals Sjogren-Larsson syndrome: A case report of a rare disease

2011 ◽  
Vol 2 (1) ◽  
pp. 31 ◽  
Author(s):  
Amit Mittal ◽  
Baljeet Maini ◽  
Sanjeev Gupta ◽  
SP Gupta
Keyword(s):  
Case Report ◽  
Rare Disease ◽  
Larsson Syndrome

Compound heterozygous mutations in the ALDH3A2 gene cause Sjögren-Larsson syndrome: a case report

2020 ◽  
Vol 130 (11) ◽  
pp. 1156-1160
Author(s):  
Yi-Dan Liu ◽  
Hong-Juan Lin ◽  
Chun-Yan Li ◽  
Guang-Fei Sun ◽  
Xi-Bin Hu ◽  
...  
Keyword(s):  
Case Report ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations ◽  
Larsson Syndrome

Cerebral MRI and spectroscopy in Sjögren-Larsson syndrome: Case report

1995 ◽  
Vol 37 (3) ◽  
pp. 225-228 ◽  
Author(s):  
Y. Miyanomae ◽  
M. Ochi ◽  
H. Yoshioka ◽  
K. Takaya ◽  
Z. Kizaki ◽  
...  
Keyword(s):  
Case Report ◽  
Cerebral Mri ◽  
Larsson Syndrome

scholarly journals A case report: Sjogren Larsson Syndrome

2019 ◽  
Vol 16 (5) ◽  
Author(s):  
Desale Snehal ◽  
Gugle Anil ◽  
Kote Rahul ◽  
Jadhav Vikrant
Keyword(s):  
Case Report ◽  
Larsson Syndrome
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