Insertional Mutagenesis of the Mouse Acid Ceramidase Gene Leads to Early Embryonic Lethality in Homozygotes and Progressive Lipid Storage Disease in Heterozygotes

Genomics ◽  
2002 ◽  
Vol 79 (6) ◽  
pp. 890
Author(s):  
Chi-Ming Li ◽  
Jae-Ho Park ◽  
Calogera M. Simonaro ◽  
Xingxuan He ◽  
Ronald E. Gordon ◽  
...  
Keyword(s):  
Insertional Mutagenesis ◽  
Storage Disease ◽  
Embryonic Lethality ◽  
Lipid Storage ◽  
Acid Ceramidase ◽  
Lipid Storage Disease ◽  
Early Embryonic Lethality

Prosaposin Deficiency - a Rarely Diagnosed, Rapidly Progressing, Neonatal Neurovisceral Lipid Storage Disease. Report of a Further Patient

2005 ◽  
Vol 36 (3) ◽  
pp. 171-180 ◽  
Author(s):  
M. Elleder ◽  
M. Jeřábková ◽  
A. Befekadu ◽  
M. Hřebíček ◽  
L. Berná ◽  
...  
Keyword(s):  
Storage Disease ◽  
Lipid Storage ◽  
Lipid Storage Disease

Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant

2018 ◽  
Vol 28 (7) ◽  
pp. 606-609 ◽  
Author(s):  
Caitlin S. Latimer ◽  
Jennifer Schleit ◽  
Adam Reynolds ◽  
Desiree A. Marshall ◽  
Benjamin Podemski ◽  
...  
Keyword(s):  
Neutral Lipid ◽  
Storage Disease ◽  
Lipid Storage ◽  
Phenotypic Characterization ◽  
Lipid Storage Disease ◽  
Neutral Lipid Storage Disease

Pulmonary functions and sleep-related breathing disorders in lipid storage disease

2018 ◽  
Vol 22 (4) ◽  
pp. 1137-1142 ◽  
Author(s):  
Züleyha Bingöl ◽  
Hacer Durmuş Tekce ◽  
Gülseren Sağcan ◽  
Piraye Serdaroğlu ◽  
Esen Kıyan
Keyword(s):  
Storage Disease ◽  
Lipid Storage ◽  
Lipid Storage Disease ◽  
Sleep Related Breathing Disorders ◽  
Pulmonary Functions ◽  
Breathing Disorders

scholarly journals Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review

2020 ◽  
Vol 83 (3) ◽  
pp. 317-322
Author(s):  
Makoto Samukawa ◽  
Naoko Nakamura ◽  
Makito Hirano ◽  
Miyuki Morikawa ◽  
Hanami Sakata ◽  
...  
Keyword(s):  
Neutral Lipid ◽  
Storage Disease ◽  
Clinical Laboratory ◽  
Lipid Storage ◽  
Compound Heterozygous ◽  
Homozygous Mutation ◽  
Lipid Storage Disease ◽  
Consistent Finding ◽  
Pulmonary Cysts ◽  
Neutral Lipid Storage Disease

Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy (NLSDM) or triglyceride deposit cardiomyovasculopathy. We report a detailed case study of a 53-year-old man with NLSDM. The PNPLA2 gene was analyzed according to the reported method. We summarized the clinical, laboratory, and genetic information of 56 patients, including our patient and 55 other reported patients with homozygous or compound heterozygous mutations in the PNPLA2 gene. We found a novel homozygous mutation (c.194delC) in the PNPLA2 gene that resulted in frameshift. The patient suffered from normal-tension glaucoma and pulmonary cysts, symptoms that are relatively common in the elderly but were not previously reported for this disease. Our summary confirmed that Jordan’s anomaly, polymorphonuclear leukocytes with lipid accumulation, was the most consistent finding of this disease. Because this disease is potentially treatable, our results may help rapid and correct diagnosis.

Neutral lipid storage disease co-existing with ichthyosiform dermatosis

1994 ◽  
Vol 153 (3) ◽  
pp. 210-211 ◽  
Author(s):  
A. Dursun ◽  
A. Kubar ◽  
A. Gokoz ◽  
F. Duru ◽  
A. Gürgey
Keyword(s):  
Neutral Lipid ◽  
Storage Disease ◽  
Lipid Storage ◽  
Lipid Storage Disease ◽  
Neutral Lipid Storage Disease

Progressive paresis of vertical gaze in lipid storage disease

Neurology ◽  
1971 ◽  
Vol 21 (9) ◽  
pp. 896-896 ◽  
Author(s):  
W. D. Grover ◽  
J. L. Naiman
Keyword(s):  
Storage Disease ◽  
Lipid Storage ◽  
Lipid Storage Disease ◽  
Vertical Gaze
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