Early‐onset granulomatous arthritis, uveitis and skin rash: characterization of skin involvement in Blau syndrome

2019 ◽  
Vol 34 (2) ◽  
pp. 340-348 ◽  
Author(s):  
J. Poline ◽  
O. Fogel ◽  
C. Pajot ◽  
C. Miceli‐Richard ◽  
M. Rybojad ◽  
...  
Keyword(s):  
Skin Rash ◽  
Early Onset ◽  
Blau Syndrome ◽  
Skin Involvement

Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3

1995 ◽  
Vol 4 (8) ◽  
pp. 1355-1364 ◽  
Author(s):  
Marc Cruts ◽  
Hubert Backhovens ◽  
Jessie Theuns ◽  
Robert F. Clark ◽  
Denis Le Paslier ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Physical Characterization ◽  
Early Onset Alzheimer’S Disease

A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene

2007 ◽  
Vol 157 (6) ◽  
pp. 1257-1259 ◽  
Author(s):  
P. Coto-Segura ◽  
S. Mallo-Garcia ◽  
M. Costa-Romero ◽  
J.I. Arostegui ◽  
J. Yague ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Early Onset ◽  
Sporadic Case ◽  
Blau Syndrome ◽  
Early Onset Sarcoidosis

scholarly journals Single Molecule FRET Characterization of Oligomers from Alpha-Synuclein Early Onset Parkinson's Disease Mutants

2014 ◽  
Vol 106 (2) ◽  
pp. 269a ◽  
Author(s):  
Laura Tosatto ◽  
Mathew H. Horrocks ◽  
Cremades Nunilo ◽  
Tim Guilliams ◽  
Mauro Dalla Serra ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Single Molecule ◽  
Early Onset ◽  
Alpha Synuclein ◽  
Single Molecule Fret ◽  
Early Onset Parkinson’S Disease

Histological, biochemical, and genetic characterization of early-onset fulminating sialidosis type 2 in a Korean neonate with hydrops fetalis

2014 ◽  
Vol 36 (2) ◽  
pp. 171-175 ◽  
Author(s):  
Beom Hee Lee ◽  
Yoo-Mi Kim ◽  
Joo Hyun Kim ◽  
Gu-Hwan Kim ◽  
Byong Sop Lee ◽  
...  
Keyword(s):  
Early Onset ◽  
Genetic Characterization ◽  
Hydrops Fetalis

scholarly journals Ophthalmological treatment of early-onset sarcoidosis/Blau syndrome in a Colombian child: A case report

2020 ◽  
Vol 18 ◽  
pp. 100714
Author(s):  
María Alejandra Marín-Noriega ◽  
Juliana Muñoz-Ortiz ◽  
Catalina Mosquera ◽  
Alejandra de-la-Torre
Keyword(s):  
Case Report ◽  
Early Onset ◽  
Blau Syndrome ◽  
Early Onset Sarcoidosis
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