Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase …
T Almási, LT Guey, C Lukacs, K Csetneki… - Orphanet journal of rare …, 2019 - Springer
Methylmalonic acidemia/aciduria (MMA) is a genetically heterogeneous group of inherited
metabolic disorders biochemically characterized by the accumulation of methylmalonic acid …
metabolic disorders biochemically characterized by the accumulation of methylmalonic acid …
Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in Suzhou, China: disease spectrum, prevalence, genetic characteristics …
T Wang, J Ma, Q Zhang, A Gao, QI Wang, H Li… - Frontiers in …, 2019 - frontiersin.org
Expanded newborn screening for inborn errors of metabolism (IEMs) by tandem mass
spectrometry (MS/MS) could simultaneously analyze more than 40 metabolites and identify …
spectrometry (MS/MS) could simultaneously analyze more than 40 metabolites and identify …
Systematic literature review and meta-analysis on the epidemiology of propionic acidemia
T Almási, LT Guey, C Lukacs, K Csetneki… - Orphanet journal of rare …, 2019 - Springer
Abstract Propionic acidemia (PA, OMIM# 606054) is a serious, life-threatening, inherited,
metabolic disorder caused by the deficiency of the mitochondrial enzyme propionyl …
metabolic disorder caused by the deficiency of the mitochondrial enzyme propionyl …
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population
Y Lin, Q Zheng, T Zheng, Z Zheng, W Lin, Q Fu - Clinica Chimica Acta, 2019 - Elsevier
To evaluate the incidence, disease spectrum, and genetic characteristics of inherited
metabolic disorders (IMDs) of newborns in Quanzhou area, China. We analyze the …
metabolic disorders (IMDs) of newborns in Quanzhou area, China. We analyze the …
Methylmalonic acidemia/propionic acidemia–the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation …
Background Most patients with isolated methylmalonic acidemia (MMA)/propionic acidemia
(PA) presenting during the neonatal period with acute metabolic distress are at risk for death …
(PA) presenting during the neonatal period with acute metabolic distress are at risk for death …
Biochemical, molecular, and clinical characterization of patients with primary carnitine deficiency via large-scale newborn screening in Xuzhou area
W Zhou, H Li, T Huang, Y Zhang, C Wang… - Frontiers in …, 2019 - frontiersin.org
Background: Primary carnitine deficiency (PCD) is attributed to a variation in the SLC22A5
(OCTN2) gene which encodes the key protein of the carnitine cycle, the OCTN2 carnitine …
(OCTN2) gene which encodes the key protein of the carnitine cycle, the OCTN2 carnitine …
Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China
X Wang, Y He, Y Jiang, X Feng, G Zhang, Z Xia… - Clinica Chimica …, 2019 - Elsevier
In this study, we evaluated the incidence and genetic characteristics of
hyperphenylalaninemia (HPA) in Xiamen, China. We analyzed the newborn screening data …
hyperphenylalaninemia (HPA) in Xiamen, China. We analyzed the newborn screening data …
Isolated subacute combined degeneration in late-onset cobalamin C deficiency in children: Two case reports and literature review
J Cui, Y Wang, H Zhang, X Cui, L Wang, H Zheng - Medicine, 2019 - journals.lww.com
Interventions: The patients were treated with methylcobalamin 500 μg intravenous injection
daily after being admitted. After the diagnosis, levocarnitine, betaine, and vitamin B12 were …
daily after being admitted. After the diagnosis, levocarnitine, betaine, and vitamin B12 were …
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism
W Wang, J Yang, J Xue, W Mu, X Zhang, W Wu… - BMC Medical …, 2019 - Springer
Background Tandem mass spectrometry (MS MS) and simple fluorometric assays are
currently used in newborn screening programs to detect inborn errors of metabolism (IEM) …
currently used in newborn screening programs to detect inborn errors of metabolism (IEM) …
3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?
H Wang, S Liu, B Wang, Y Yang, B Yu… - Journal of Pediatric …, 2019 - degruyter.com
Objective To evaluate whether 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD)
should be routinely screened in newborns. Methods Dried blood spots (DBS) were collected …
should be routinely screened in newborns. Methods Dried blood spots (DBS) were collected …