BACKGROUND: The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood. AIMS: To evaluate the complex clinical phenotype of OAD and UCD patients at different ages. RESULTS: Acquired microcephaly and movement disorders were common in OAD and UCD highlighting that the brain is the major organ involved in these diseases. Cardiomyopathy [methylmalonic (MMA) and propionic aciduria (PA)], prolonged QTc interval (PA), optic nerve atrophy [MMA, isovaleric aciduria (IVA)], pancytopenia (PA), and macrocephaly [glutaric aciduria type 1 (GA1)] were exclusively found in OAD patients, whereas hepatic involvement was more frequent in UCD patients, in particular in argininosu...
Organic acidurias, such as glutaric aciduria type 1, methylmalonic, and propionic aciduria (GA1, MMA...
BACKGROUND AND AIM: To describe current diagnostic and therapeutic strategies in organic acidurias (...
The urea cycle is a metabolic pathway for the disposal of excess nitrogen, which arises primarily as...
Background The disease course and long-term outcome of patients with organic acidurias (OAD) and ure...
BACKGROUND: The disease course and long-term outcome of patients with organic acidurias (OAD) and ur...
BACKGROUND: The clinical presentation of patients with organic acidurias (OAD) and urea cycle disord...
BACKGROUND: The clinical presentation of patients with organic acidurias (OAD) and urea cycle disord...
Background The clinical presentation of patients with organic acidurias (OAD) and urea cycle disorde...
BACKGROUND: Urea cycle disorders (UCD) are rare diseases that usually affect neonates or young child...
Organic acidurias (OADs) and urea cycle disorders (UCDs) are inborn metabolic disorders with a risk ...
Urea cycle disorders (UCDs) are inherited disorders of ammonia detoxification often regarded as main...
357-362Urea cycle disorders are a group of inborn error of metabolism, characterized by hyperammone...
International audienceBACKGROUND: Classical organic acidurias including methylmalonic aciduria (MMA)...
BACKGROUND: Urea cycle disorders (UCDs) are rare inherited metabolic defects of ammonia detoxificati...
Urea cycle disorders (UCD) encompass several enzyme deficiencies with a wide clinical spectrum from ...
Organic acidurias, such as glutaric aciduria type 1, methylmalonic, and propionic aciduria (GA1, MMA...
BACKGROUND AND AIM: To describe current diagnostic and therapeutic strategies in organic acidurias (...
The urea cycle is a metabolic pathway for the disposal of excess nitrogen, which arises primarily as...
Background The disease course and long-term outcome of patients with organic acidurias (OAD) and ure...
BACKGROUND: The disease course and long-term outcome of patients with organic acidurias (OAD) and ur...
BACKGROUND: The clinical presentation of patients with organic acidurias (OAD) and urea cycle disord...
BACKGROUND: The clinical presentation of patients with organic acidurias (OAD) and urea cycle disord...
Background The clinical presentation of patients with organic acidurias (OAD) and urea cycle disorde...
BACKGROUND: Urea cycle disorders (UCD) are rare diseases that usually affect neonates or young child...
Organic acidurias (OADs) and urea cycle disorders (UCDs) are inborn metabolic disorders with a risk ...
Urea cycle disorders (UCDs) are inherited disorders of ammonia detoxification often regarded as main...
357-362Urea cycle disorders are a group of inborn error of metabolism, characterized by hyperammone...
International audienceBACKGROUND: Classical organic acidurias including methylmalonic aciduria (MMA)...
BACKGROUND: Urea cycle disorders (UCDs) are rare inherited metabolic defects of ammonia detoxificati...
Urea cycle disorders (UCD) encompass several enzyme deficiencies with a wide clinical spectrum from ...
Organic acidurias, such as glutaric aciduria type 1, methylmalonic, and propionic aciduria (GA1, MMA...
BACKGROUND AND AIM: To describe current diagnostic and therapeutic strategies in organic acidurias (...
The urea cycle is a metabolic pathway for the disposal of excess nitrogen, which arises primarily as...