scholarly journals Autosomal recessive cutis laxa type 1

2020 ◽  
Author(s):  
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa

Autosomal Recessive Cutis Laxa Type 1

2009 ◽  
pp. 196-196
Author(s):  
Hubert Scharnagl ◽  
Winfried März ◽  
Markus Böhm ◽  
Thomas A. Luger ◽  
Federico Fracassi ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa

scholarly journals Autosomal recessive cutis laxa type-1 with complex systemic manifestations

2018 ◽  
Vol 19 (3) ◽  
pp. 274
Author(s):  
AshishRamchandra Deshmukh ◽  
ShrutiDhanraj Chavan ◽  
AniruddhaDharnidhar Gulanikar ◽  
ShilpaSatyajeet Pathrikar ◽  
IqbalMohammad Tariq
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa ◽  
Systemic Manifestations

Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

2013 ◽  
Vol 110 (3) ◽  
pp. 352-361 ◽  
Author(s):  
Aikaterini Dimopoulou ◽  
Björn Fischer ◽  
Thatjana Gardeitchik ◽  
Phillipe Schröter ◽  
Hülya Kayserili ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa

scholarly journals Gaucher's Disease - A case report

2015 ◽  
Vol 2 (2) ◽  
pp. 130
Author(s):  
Preeti Bajaj ◽  
Jyoti Kasture ◽  
Balbir Singh Shah
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Early Adulthood ◽  
Lysosomal Storage ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Type 3 ◽  
Storage Disorders

Gaucher's Disease (GD) is an autosomal recessive systemic lysosomal storage disorder which is characterized by glucocerebroside deposition in cells of the macrophage-monocyte system as a result of a deficiency in lysosomal P-glycosidase (glucocerebrosidase). GD is a rare genetic disorder. It is the most common amongst the lysosomal storage disorders. GD has been categorised into three types based on the presence of central nervous involvement1. Type 1 is a non-neuronopathic form that presents in childhood or early adulthood. Type 2 is acute neuronopathic form that presents in childhood. It progresses rapidly and is fatal. Type 3 is chronic non-neuronopathic form that presents in childhood but is slowly progressive. Here we describe a case of a three and a half year old male child in whom a diagnosis of Gaucher's disease was made based on bone marrow biopsy and later confirmed by glucocerebrosidase levels estimation.

scholarly journals Generalized acquired cutis laxa type 1: a case report and brief review of literature

2016 ◽  
Vol 22 (3) ◽  
Author(s):  
Piyush Kumar ◽  
Sushil S Savant ◽  
Anupam Das
Keyword(s):  
Case Report ◽  
Cutis Laxa ◽  
Review Of Literature
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