[HTML][HTML] Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review
Background Inborn errors of metabolism (IEMs) have been anecdotally reported in the
literature as presenting with features of cerebral palsy (CP) or misdiagnosed as 'atypical CP' …
literature as presenting with features of cerebral palsy (CP) or misdiagnosed as 'atypical CP' …
Severe early onset ethylmalonic encephalopathy with West syndrome
L Papetti, G Garone, L Schettini, C Giordano… - Metabolic brain …, 2015 - Springer
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by
early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and …
early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and …
Identification of a novel homozygous nonsense variant in a Chinese patient with ethylmalonic encephalopathy and a genotype-phenotype spectrum review
Y Tao, D Han, X Li, L Wang, L Yue, C Huang, D Lu… - Clinica Chimica …, 2020 - Elsevier
Ethylmalonic encephalopathy (EE) is a rare and devastating neurodegenerative disease
caused by mutations in the ETHE1 gene. It is characterized by early-onset encephalopathy …
caused by mutations in the ETHE1 gene. It is characterized by early-onset encephalopathy …
Diffusion restriction in ethylmalonic encephalopathy–An imaging evidence of the pathophysiology of the disease
Ethylmalonic encephalopathy is an inborn error of metabolism characterized by
encephalopathy, petechiae chronic diarrhea and acrocyanosis. Imaging findings include …
encephalopathy, petechiae chronic diarrhea and acrocyanosis. Imaging findings include …
8 years report of urine organic acid analysis-Comparison before and after introduction of neonatal screening test using tandem mass spectrometry
SM Ahn, WC Shin, HB Jeong, YJ Seo… - Journal of The …, 2018 - koreascience.kr
Purpose: Disorders of organic acid metabolism have various clinical manifestations and it
may be life-threatening. The prognoses of affected children are dependent on early …
may be life-threatening. The prognoses of affected children are dependent on early …
Ethylmalonic encephalopathy
C Staufner - Atlas of Inherited Metabolic Diseases, 2020 - taylorfrancis.com
A specific type of disorder in which ethylmalonic aciduria is associated with a very different
phenotype and normal oxidation of fatty acids was first reported in 1991 and 1994. After the …
phenotype and normal oxidation of fatty acids was first reported in 1991 and 1994. After the …
Clinical presentation and genetic characterisation of mitochondrial disease in Kuwait
AA Alahmad - 2020 - theses.ncl.ac.uk
Mitochondrial disorders are a group of clinically heterogenous conditions affecting multiple
systems with a prevalence that is estimated to affect 1 in 4,300 individuals. Mitochondrial …
systems with a prevalence that is estimated to affect 1 in 4,300 individuals. Mitochondrial …
[PDF][PDF] Laura Papetti, Giacomo Garone, Livia Schettini, Carla Giordano, Francesco Nicita, Paola Papoff, Massimo Zeviani
V Leuzzi - researchgate.net
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by
early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and …
early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and …
