We describe the case of a 13-year-old male with ù aciduria. Conventional magnetic resonance imaging and diffusion weighted imaging disclosed some previously unreported findings. In particular, we observed an almost total sparing of early myelinated regions, and a restricted diffusion pattern in the dentate nuclei. Magnetization transfer contrast showed a normal range of values in early myelinated regions, and revealed abnormal values in the subcortical temporal white matter, internal capsule and globi palladi
PubMed ID: 12846696Metachromatic leukodystrophy is characterized by dysmyelination caused by a defic...
PubMed ID: 15515520Purpose: To evaluate metabolic and toxic brain disorders that manifest with restr...
AbstractClassically, methylmalonic acidemia (MMA) is characterized on imaging by abnormalities in th...
We describe the case of a 13-year-old male with ù aciduria. Conventional magnetic resonance imaging ...
WOS: 000180561500007PubMed ID: 12544241A 10-month-old boy was reported with the diagnosis of L-2 hyd...
WOS: 000178252300011PubMed ID: 12380485An 8-year-old boy with the intermediate variant of maple syru...
L-2-Hydroxyglutaric aciduria is a rare inherited, neurometabolic disorder. The underlying metabolic ...
PubMed ID: 12886139We report about a boy with nonketotic hyperglycinemia who was studied at 15 days ...
WOS: 000184528200015PubMed ID: 12886139We report about a boy with nonketotic hyperglycinemia who was...
To describe the pattern of magnetic resonance (MR) imaging abnormalities in l-2-hydroxyglutaric acid...
WOS: 000178052100030PubMed ID: 12223391Herein the case of a 10-month-old boy, with metachromatic leu...
Summary: Herein the case of a 10-month-old boy with metachromatic leukodystrophy is reported. Diffus...
Leucoencephalopathy with brainstem and spinal cord involvement and elevated lactate is a white matte...
Abstractl-2-Hydroxyglutaric (l-2-HG) aciduria is a rare inherited metabolic disease usually observed...
WOS: 000229458400008PubMed ID: 15891499In a 5-month-old boy with tyrosinemia, computed tomography re...
PubMed ID: 12846696Metachromatic leukodystrophy is characterized by dysmyelination caused by a defic...
PubMed ID: 15515520Purpose: To evaluate metabolic and toxic brain disorders that manifest with restr...
AbstractClassically, methylmalonic acidemia (MMA) is characterized on imaging by abnormalities in th...
We describe the case of a 13-year-old male with ù aciduria. Conventional magnetic resonance imaging ...
WOS: 000180561500007PubMed ID: 12544241A 10-month-old boy was reported with the diagnosis of L-2 hyd...
WOS: 000178252300011PubMed ID: 12380485An 8-year-old boy with the intermediate variant of maple syru...
L-2-Hydroxyglutaric aciduria is a rare inherited, neurometabolic disorder. The underlying metabolic ...
PubMed ID: 12886139We report about a boy with nonketotic hyperglycinemia who was studied at 15 days ...
WOS: 000184528200015PubMed ID: 12886139We report about a boy with nonketotic hyperglycinemia who was...
To describe the pattern of magnetic resonance (MR) imaging abnormalities in l-2-hydroxyglutaric acid...
WOS: 000178052100030PubMed ID: 12223391Herein the case of a 10-month-old boy, with metachromatic leu...
Summary: Herein the case of a 10-month-old boy with metachromatic leukodystrophy is reported. Diffus...
Leucoencephalopathy with brainstem and spinal cord involvement and elevated lactate is a white matte...
Abstractl-2-Hydroxyglutaric (l-2-HG) aciduria is a rare inherited metabolic disease usually observed...
WOS: 000229458400008PubMed ID: 15891499In a 5-month-old boy with tyrosinemia, computed tomography re...
PubMed ID: 12846696Metachromatic leukodystrophy is characterized by dysmyelination caused by a defic...
PubMed ID: 15515520Purpose: To evaluate metabolic and toxic brain disorders that manifest with restr...
AbstractClassically, methylmalonic acidemia (MMA) is characterized on imaging by abnormalities in th...