Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders

2015 ◽  
Vol 35 (11) ◽  
pp. 1137-1147 ◽  
Author(s):  
Jyotsna Verma ◽  
Divya C. Thomas ◽  
Sandeepika Sharma ◽  
Geetu Jhingan ◽  
Renu Saxena ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Metabolic Disorders ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Inherited Metabolic Disorders ◽  
Storage Disorders

Utility of amniotic fluid chitotriosidase in the prenatal diagnosis of lysosomal storage disorders

2018 ◽  
Vol 61 ◽  
pp. 40-44
Author(s):  
Srilatha Kadali ◽  
Tumuluri Madalasa ◽  
Gummadi Maheshwar Reddy ◽  
Shaik Mohammad Naushad
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Storage Disorders

Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis

2018 ◽  
Vol 38 (10) ◽  
pp. 779-787 ◽  
Author(s):  
Duan Li ◽  
Yunting Lin ◽  
Yonglan Huang ◽  
Wen Zhang ◽  
Minyan Jiang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Analysis ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Storage Disorders

Metabolic disorders

2016 ◽  
Author(s):  
Sathiji Nageshwaran ◽  
Heather C Wilson ◽  
Anthony Dickenson ◽  
David Ledingham
Keyword(s):  
Clinical Features ◽  
Inborn Errors Of Metabolism ◽  
Metabolic Disorders ◽  
Nutrient Deficiency ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Peroxisomal Disorders ◽  
Inborn Errors ◽  
Neurological Toxicity ◽  
Storage Disorders

This chapter discusses the clinical features and management of inborn errors of metabolism (lysosomal storage disorders, peroxisomal disorders, Wilson’s disease, porphyria, and phenylketonuria), vitamin and nutrient deficiency syndromes, and neurological toxicity syndromes.

scholarly journals Prenatal Diagnosis of Lysosomal Storage Disorders by Enzymes Study Using Chorionic Villus and Amniotic Fluid

2014 ◽  
Vol 1 (1) ◽  
pp. 17-24 ◽  
Author(s):  
Jayesh Sheth ◽  
Mehul Mistri ◽  
Frenny Sheth ◽  
Chaitanya Datar ◽  
Koumudi Godbole ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
Chorionic Villus ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Storage Disorders

scholarly journals Prenatal diagnosis of lysosomal storage disorders: our experience in 120 cases

2014 ◽  
Vol 7 (Suppl 1) ◽  
pp. P126 ◽  
Author(s):  
Mehul Mistri ◽  
Nrupesh Oza ◽  
Frenny Sheth ◽  
Jayesh Sheth
Keyword(s):  
Prenatal Diagnosis ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Storage Disorders
Sign in / Sign up

Export Citation Format

Share Document