Mass Screening, AREA[OverallStatus], Open or Pending: 277 Clinical Trials, Page 1 of 28

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4

Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan

Condition(s):Propionic/Methylmalonic Acidemias; Maple Syrup Urine Disease; Citrullinemia; Argininosuccinic Aciduria; Ornithine Transcarbamylase Deficiency; Carbamoyl Phosphate Synthetase I Deficiency; N-acetylglutamate Synthase Deficiency; Nonketotic Hyperglycinemia; Tyrosinemia; Homocystinuria; Arginase Deficiency; Isovaleric Acidemia; Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency; Isobutyryl-CoA Dehydrogenase Deficiency; Glutaric Acidemia Type I; 3-methylcrotonyl-CoA Carboxylase Deficiency; Biotinidase Deficiency; Malonyl-CoA Decarboxylase Deficiency; Beta-ketothiolase Deficiency; 3-hydroxy-3-methylglutaryl-CoA Lyase Deficiency; 3-methylglutaconyl-CoA Hydratase Deficiency; Medium-chain Acyl-CoA Dehydrogenase Deficiency; Very Long-chain Acyl-CoA Dehydrogenase Deficiency; Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency; Glutaric Acidemia Type II; Primary Carnitine Deficiency; Carnitine Palmitoyltransferase I Deficiency; Carnitine Palmitoyltransferase II Deficiency; Carnitine-acylcarnitine Translocase DeficiencyLast Updated:June 18, 2023Recruiting

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