Results 61 to 70 of about 174,613,300 (296)
Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (2000) [PDF]
, 2000 Two trials of external quality assessment for inborn error of metabolism was performed in 2000. Total 11 specimens for neonatal screening tests were distributed to 68 laboratories with a response rate of 77.9%(53/68) in trial I, with a response rate of ...
김정호
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British Journal of Clinical Pharmacology, EarlyView.Aim This study aimed to describe the pharmacokinetics (PK) of levetiracetam (LEV) in term neonates treated for neonatal seizures secondary to hypoxic–ischemic encephalopathy (HIE). Methods Fifteen neonates were included and received a loading dose ranging from 30 to 60 mg/kg followed by eight maintenance doses corresponding to one‐fourth of the loading
Léo Mimram +9 more
wiley +1 more source
, 2016 Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and deaths.
openaire +3 more sources
Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (2003) [PDF]
, 2004 The trial of external quality assessment for inborn error of metabolism was performed in 2003. A total 10 specimens for neonatal screening tests were distributed to 43 laboratories with a response rate of 83%.
김정호
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Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
JIMD Reports, 2022 We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth.
Álvaro Martín‐Rivada +19 more
doaj +1 more source
Inborn errors in the metabolism of glutathione [PDF]
Orphanet Journal of Rare Diseases, 2007 Glutathione is a tripeptide composed of glutamate, cysteine and glycine. Glutathione is present in millimolar concentrations in most mammalian cells and it is involved in several fundamental biological functions, including free radical scavenging, detoxification of xenobiotics and carcinogens, redox reactions, biosynthesis of DNA, proteins and ...
Larsson Agne, Ristoff Ellinor
openaire +3 more sources
, 2014 Inborn errors of vitamin B-12 (cobalamin) metabolism are characterized by decreased production of active cobalamin cofactors and subsequent deficiencies in the activities of methionine synthase and methylmalonyl-CoA mutase.
Kim, Jaeseung C.;Lee, Ni-Chung;Hwu, Paul Wuh-Liang;Chien, Yin-Hsiu;Fahiminiya, Somayyeh;Majewski, Jacek;Watkins, David;Rosenblatt, David S. +1 more
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Long‐Acting Therapeutics in Pediatric Health: Bridging Innovation and Access
Clinical Pharmacology &Therapeutics, EarlyView.Children have distinct therapeutic needs arising from age‐dependent physiology, disease epidemiology, formulation requirements, dosing considerations, and safety vulnerabilities. Despite substantial reductions in childhood mortality over the past three decades, nearly 5 million children under five died in 2023, with infectious diseases continuing to ...
Prajith Venkatasubramanian +5 more
wiley +1 more source
Journal of Pediatric Critical Care, 2020 The metabolic crisis due to inborn error of metabolism can present as an isolated entity or along with the underlying sepsis at any age in children. Here, we present 14 months old boy born of third-degree consanguinity, apparently healthy in the past ...
Ramaning Loni +4 more
doaj +1 more source
Tests for Suspected Inborn Errors of Metabolism
, 1995 The initial laboratory assessment of infants and children with suspected inborn errors of metabolism (IEM) is reviewed by the Department of Medical Genetics, Mayo Clinic, Rochester ...
J Gordon Millichap, Millichap, J. Gordon
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