Metabolic disorders can manifest especially in the neonatal and infant period by: hypoglycemia, heart failure, primary hyperlactacidemia, liver failure, untreatable convulsions, neurologic damage. The authors present the main manifestations of metabolic emergencies and their emergency treatment
BACKGROUND The 'classic' organic acidaemias (OAs) (propionic, methylmalonic and isovaleric) typical...
Metabolic diseases should always be considered when evaluating children presenting with seizures. Th...
CONTEXT: Inborn Errors of Metabolism are hereditary affections resulting from incompetence in enzyma...
Often, patients with metabolic conditions (diseases caused by electrolytic unbalances, endocrine dys...
Inborn errors of metabolism are a growing group of monogenic hereditary diseases whose pathogenesis ...
This article reviewed the pathophysiology, diagnostic approach based on age of presentation and symp...
Inborn errors of metabolism are disorders of great importance to physicians treating newborns becaus...
It is important to fast diagnosis and management of the pediatric patients of the endocrine metaboli...
Hyperammonemia can be a potentially fatal disorder, secondary to several different etiologies, most ...
During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend...
Individually, metabolic disorders are rare, but overall they account for a significant number of neo...
Abstract: Inborn errors of metabolism are a group of diseases that converge in the presence of mutat...
More than 350 kinds of congenital metabolic diseases are described in the pediatric textbook by Nels...
Inherited metabolic diseases account for about one third of pediatric patients with hepatomegaly, ac...
In spite of the efforts and interventions by the Government of Pakistan and The World Health Organiz...
BACKGROUND The 'classic' organic acidaemias (OAs) (propionic, methylmalonic and isovaleric) typical...
Metabolic diseases should always be considered when evaluating children presenting with seizures. Th...
CONTEXT: Inborn Errors of Metabolism are hereditary affections resulting from incompetence in enzyma...
Often, patients with metabolic conditions (diseases caused by electrolytic unbalances, endocrine dys...
Inborn errors of metabolism are a growing group of monogenic hereditary diseases whose pathogenesis ...
This article reviewed the pathophysiology, diagnostic approach based on age of presentation and symp...
Inborn errors of metabolism are disorders of great importance to physicians treating newborns becaus...
It is important to fast diagnosis and management of the pediatric patients of the endocrine metaboli...
Hyperammonemia can be a potentially fatal disorder, secondary to several different etiologies, most ...
During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend...
Individually, metabolic disorders are rare, but overall they account for a significant number of neo...
Abstract: Inborn errors of metabolism are a group of diseases that converge in the presence of mutat...
More than 350 kinds of congenital metabolic diseases are described in the pediatric textbook by Nels...
Inherited metabolic diseases account for about one third of pediatric patients with hepatomegaly, ac...
In spite of the efforts and interventions by the Government of Pakistan and The World Health Organiz...
BACKGROUND The 'classic' organic acidaemias (OAs) (propionic, methylmalonic and isovaleric) typical...
Metabolic diseases should always be considered when evaluating children presenting with seizures. Th...
CONTEXT: Inborn Errors of Metabolism are hereditary affections resulting from incompetence in enzyma...
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