Liver-Based Inherited Metabolic Disorders

2021 ◽  
pp. 875-897
Author(s):  
Roshni Vara
Keyword(s):  
Metabolic Disorders ◽  
Inherited Metabolic Disorders

scholarly journals Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders

2016 ◽  
Vol 11 (6) ◽  
pp. 467-473 ◽  
Author(s):  
Cristel C. Chapel-Crespo ◽  
George A. Diaz ◽  
Kimihiko Oishi
Keyword(s):  
Glutamic Acid ◽  
Metabolic Disorders ◽  
Inherited Metabolic Disorders

Ketogenic diets in patients with inherited metabolic disorders

2015 ◽  
Vol 38 (4) ◽  
pp. 765-773 ◽  
Author(s):  
S. Scholl-Bürgi ◽  
A. Höller ◽  
K. Pichler ◽  
M. Michel ◽  
E. Haberlandt ◽  
...  
Keyword(s):  
Metabolic Disorders ◽  
Ketogenic Diets ◽  
Inherited Metabolic Disorders

INHERITED METABOLIC DISORDERS AND HEART DISEASES

2019 ◽  
Author(s):  
Vjekoslav Krželj ◽  
Ivana Čulo Čagalj
Keyword(s):  
Metabolic Disorders ◽  
Metabolic Diseases ◽  
Technological Development ◽  
Heart Diseases ◽  
Glycogen Storage ◽  
Acid Oxidation ◽  
Lysosomal Storage ◽  
Glycogen Storage Diseases ◽  
Coronary Diseases ◽  
Inherited Metabolic Disorders

Inherited metabolic disorders can cause heart diseases, cardiomyopathy in particular, as well as cardiac arrhythmias, valvular and coronary diseases. More than 40 different inherited metabolic disorders can provoke cardiomyopathy, including lysosomal storage disorders, fatty acid oxidation defects, organic acidemias, amino acidopathies, glycogen storage diseases, congenital disorders of glycosylation as well as peroxisomal and mitochondrial disorders. If identified and diagnosed on time, some of congenital metabolic diseases could be successfully treated. It is important to assume them in cases when heart diseases are etiologically undefined. Rapid technological development has made it easier to establish the diagnosis of these diseases. This article will focus on common inherited metabolic disorders that cause heart diseases, as well as on diseases that might be possible to treat.

scholarly journals Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM

2009 ◽  
Vol 32 (1) ◽  
pp. 127-127
Author(s):  
B. Fowler ◽  
A. Burlina ◽  
V. Kožich ◽  
C. Vianey-Saban
Keyword(s):  
Metabolic Disorders ◽  
Analytical Performance ◽  
Inherited Metabolic Disorders

Accuracy of home enteral feed preparation for children with inherited metabolic disorders

2010 ◽  
Vol 24 (1) ◽  
pp. 68-73 ◽  
Author(s):  
S. Evans ◽  
F. Preston ◽  
A. Daly ◽  
C. Neville ◽  
A. MacDonald
Keyword(s):  
Metabolic Disorders ◽  
Inherited Metabolic Disorders
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