Results 111 to 120 of about 2,017,541 (209)

Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples [PDF]

, 2018
Blood sampling for newborn screening cannot be standardized as for example blood collection in adults after an overnight fast. Therefore the influence of postprandial changes and individual variation is valuable information for the assessment of ...
Baumgartner, Matthias, De Jesus Silva Arevalo, Gabriel, Figueroa, Andrés, Fingerhut, Ralph, Fresse, Elena, Häberle, Johannes, Polanco, Olga, Rohrbach, Marianne, Torresani, Toni   +8 more
core  

Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden

International Journal of Neonatal Screening, 2017
Background: Screening newborns for severe combined immunodeficiency (SCID) has become essential, since efficient methods to identify infants with these disorders exist and early stem cell transplantation is life-saving.
Rolf H. Zetterström, Michela Barbaro, Annika Ohlsson, Stephan Borte, Susanne Jonsson, Jacek Winiarski, Ulrika von Döbeln, Lennart Hammarström   +7 more
doaj   +1 more source

Newborn screening for inborn errors of metabolism and endocrinopathies: an update [PDF]

, 2018
Newborn screening for inborn errors of metabolism and endocrinopathies has expanded during the last two decades, mainly owing to the introduction of new technologies such as tandem mass spectrometry and DNA analysis.
Fingerhut, Ralph, Olgemöller, Bernhard
core  

Closing the gap: an urgent need for newborn screening of organic acid disorders in developing countries

Journal of the Pakistan Medical Association
Organic acid disorders are rare inherited metabolic disorders of key metabolic pathways. For the identification of specific organic acids, investigation of urinary metabolites and genetic testing are required through newborn screening programmes ...
Soma Vankwani, Muhammad Wasim, Munazza Raza Mirza, Fazli Rabbi Awan   +3 more
doaj   +1 more source

Causes of and diagnostic approach to methylmalonic acidurias [PDF]

, 2018
Summary: Several mutant genetic classes that cause isolated methylmalonic acidurias (MMAuria) are known based on biochemical, enzymatic and genetic complementation analysis. The mut0 and mut− defects result from deficiency of MMCoA mutase apoenzyme which
Baumgartner, M., Fowler, B., Leonard, J.
core  

Подострый некротизирующий энцефаломиелит. Клинические наблюдения [PDF]

, 2016
ДЕТИ РАННЕГО ВОЗРАСТАМИТОХОНДРИАЛЬНЫЕ МИОПАТИИЭНЦЕФАЛОМИЕЛИТ ОСТРЫЙ НЕКРОТИЗИРУЮЩИЙМУТАЦИЯЛАКТАТ-АЦИДОЗВРОЖДЕННЫЕ, НАСЛЕДСТВЕННЫЕ И НОВОРОЖДЕННЫХ БОЛЕЗНИ И АНОМАЛИИЛИ СИНДРОММЫШЕЧНАЯ ГИПОТОНИЯДИАГНОСТИКА ...
Бердовская, А. Н., Данилова, Г. С., Домаренко, Т. Н., Мотюк, И. Н., Онегин, Е. В.   +4 more
core  

Prenatal Diagnosis in Organic Acidemia

Iranian Journal of Child Neurology, 2012
Organic acidemias are the group of metabolic disorders which define by high anion gap metabolic acidosis, hypo or hyperglycemia & hyperammonemia.Because of the severity of disease in children and its fatality in severe form of disease and also need for life long treatment, prenatal diagnosis is an important diagnostic tool.Three approaches to prenatal ...
openaire   +1 more source

Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study

Molecular Genetics and Metabolism Reports
Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare autosomal recessive fatty acid oxidation disorder resulting in energy deficiency due to impaired mitochondrial long-chain fatty acid transport.
Hanım Babazade, Tanyel Zubarioglu, Esma Uygur, Mehmet Şerif Cansever, Ertuğrul Kiykim, Çiğdem Aktuğlu Zeybek   +5 more
doaj   +1 more source

Poster Session 3

Pregnancy, Volume 2, Issue S1, January 2026.
wiley   +1 more source

Inborn errors of metabolism revealed by organic acid profile analysis in high risk Egyptian patients: Six years experience [PDF]

, 2009
Objective: To determine the prevalence and types of inborn errors of amino acid or organic acid metabolism in a group of high risk Egyptian children with clinical signs and symptoms suggestive of inherited metabolic diseases.
Boehles, H, Fateen, E, Gouda, A, Sewell, A   +3 more
core   +1 more source