Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Journal of Inherited Metabolic Disease

Volumn 38, Issue 6, 2015, Pages 1007-1019

  Huemer, Martina ^a,b,c   Kožich, Viktor ^d   Rinaldo, Piero ^e   Baumgartner, Matthias R ^a,b   Merinero, Begoña ^f   Pasquini, Elisabetta ^g   Ribes, Antonia ^h   Blom, Henk J ⁱ  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c Department of Pediatrics Landeskrankenhaus Bregenz ^*  (Austria)

^d Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^e MAYO CLINIC   (United States)

^f UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^g UNIVERSITY OF FLORENCE   (Italy)

^h HOSPITAL CLÍNIC   (Spain)

ⁱ UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ADENOSYLHOMOCYSTEINASE; COBALAMIN; CYSTATHIONINE BETA SYNTHASE; HOMOCYSTEINE; METHIONINE ADENOSYLTRANSFERASE; METHIONINE SYNTHASE; METHIONINE SYNTHASE REDUCTASE; METHYLMALONIC ACID; PROPIONYLCARNITINE; S ADENOSYLHOMOCYSTEINE; S ADENOSYLMETHIONINE; ACETYLCARNITINE; BETAINE; CARNITINE; METHIONINE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2);

DRIED BLOOD SPOT TESTING; EARLY INTERVENTION; HETEROZYGOTE; HOMOCYSTINURIA; HUMAN; INBORN ERROR OF METABOLISM; METHYLATION DISORDER; NEUROLOGIC DISEASE; NEWBORN SCREENING; PRACTICE GUIDELINE; REVIEW; SYSTEMATIC REVIEW; ANALOGS AND DERIVATIVES; BLOOD; DEFICIENCY; DRUG EFFECTS; METHYLATION; NEWBORN;

ACETYLCARNITINE; BETAINE; CARNITINE; HOMOCYSTINURIA; HUMANS; INFANT, NEWBORN; METHIONINE; METHYLATION; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); METHYLMALONIC ACID; NEONATAL SCREENING; PRACTICE GUIDELINES AS TOPIC;

EID: 84945474850     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-015-9830-z     Document Type: Review

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