Metabolic ataxias are rare. They usually start in the childhood and often have autosomal recessive inheritance. They may also present in adulthood. The diagnosis is important since some patients may be successfully managed with diet and treatments
Abstract In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, co...
Slowly progressive ataxia accompanied by cerebellar degeneration is typically genetic in origin. The...
Background: Inherited metabolic diseases (IMD) are complex medical conditions. Thanks to improvement...
Metabolic ataxias are rare. They usually start in the childhood and often have autosomal recessive i...
Ataxia is a common clinical feature in inherited metabolic disorders. There are more than 150 inheri...
Introduction Inborn errors of metabolism (IEMs) are a wide and variegate, mostly recessively inherit...
Ataxia is a movement disorder that manifests during the execution of purposeful movements. It result...
Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. T...
Inherited metabolic disorders consist of a diverse group of more than 800 rare disorders. Metabolic ...
Item does not contain fulltextInherited metabolic disorders consist of a diverse group of more than ...
A number of recessively inherited conditions with onset in infancy and childhood are characterized i...
In contrast to the early-onset inherited ataxic disorders, which are predominantly recessive, those ...
The etiology may not be determined in patients with ataxia despite detailed evaluations. The aim of ...
Cerebellar ataxias represent a heterogeneous group of neurodegenerative disorders. Two main categor...
Inherited metabolic diseases (IMDs) are genetic conditions that result in metabolism alterations. Al...
Abstract In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, co...
Slowly progressive ataxia accompanied by cerebellar degeneration is typically genetic in origin. The...
Background: Inherited metabolic diseases (IMD) are complex medical conditions. Thanks to improvement...
Metabolic ataxias are rare. They usually start in the childhood and often have autosomal recessive i...
Ataxia is a common clinical feature in inherited metabolic disorders. There are more than 150 inheri...
Introduction Inborn errors of metabolism (IEMs) are a wide and variegate, mostly recessively inherit...
Ataxia is a movement disorder that manifests during the execution of purposeful movements. It result...
Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. T...
Inherited metabolic disorders consist of a diverse group of more than 800 rare disorders. Metabolic ...
Item does not contain fulltextInherited metabolic disorders consist of a diverse group of more than ...
A number of recessively inherited conditions with onset in infancy and childhood are characterized i...
In contrast to the early-onset inherited ataxic disorders, which are predominantly recessive, those ...
The etiology may not be determined in patients with ataxia despite detailed evaluations. The aim of ...
Cerebellar ataxias represent a heterogeneous group of neurodegenerative disorders. Two main categor...
Inherited metabolic diseases (IMDs) are genetic conditions that result in metabolism alterations. Al...
Abstract In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, co...
Slowly progressive ataxia accompanied by cerebellar degeneration is typically genetic in origin. The...
Background: Inherited metabolic diseases (IMD) are complex medical conditions. Thanks to improvement...