Lipid storage myopathies (LSMs) are a heterogeneous group of genetic disorders that
present with abnormal lipid storage in multiple body organs, typically muscle. Patients can …

Multiple acyl-CoA dehydrogenase deficiency (MADD) represents a clinical spectrum in
which presentations can be divided into type I (neonatal onset with congenital anomalies) …

Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of
patients. - Abstract - Europe PMC Sign in | Create an account https://orcid.org Europe PMC Menu …

Background Glutaric acidemia type II (GA II) or multiple acyl-CoA dehydrogenase deficiency
(MADD, OMIM 231680) is an inherited autosomal recessive disease affecting fatty acid …

Inborn errors of metabolism (IEMs) are rare hereditary or acquired disorders resulting from
an enzymatic deformity in biochemical and metabolic pathways influencing proteins, fats …

Abstract 患儿, 男, 6 岁 3 个月, 2 个月前因上呼吸道感染, 发热, 父母参照说明书予以尼美舒利
口服, 半小时后抽搐, 呼吸心跳骤停, 急诊检查发现低酮性低血糖, 代谢性酸中毒 …

Glutaric acidemia type II (GAII), also known as multiple acyl-CoA dehydrogenase deficiency,
is an autosomal recessive inborn error of amino acid and fatty acid metabolism. We report a …

Diagnosis of pediatric steatohepatitis is a challenging issue due to a vast number of
established and novel causes. Here, we report a child with Multiple Acyl-CoA …

Inherited metabolic diseases (IMDs), comprise a large class of genetic diseases affecting the
metabolism. Expanded newborn screening from dried dried blood spot (DBS) samples for …

Abstract 患儿， 男， 6 岁3 个月， 2 个月前因上呼吸道感染、 发热， 父母参照说明书予以尼美舒
利口服， 半小时后抽搐， 呼吸心跳骤停， 急诊检查发现低酮性低血糖， 代谢性酸中毒 …