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JAMA Neurology, ISSN 2168-6149, 01/2016, Volume 73, Issue 1, p. 111
  Duchenne muscular dystrophy (DMD) is a candidate for the recommended universal screening panel based on evidence that early corticosteroid treatment improves... 
Newborn babies | Medical treatment | Mutation | Medical diagnosis | Medical screening | Muscular dystrophy
Journal Article
Journal Article
Journal Article
JAMA Neurology, ISSN 2168-6149, 01/2016, Volume 73, Issue 1, pp. 111 - 116
IMPORTANCE Duchenne muscular dystrophy (DMD) is a candidate for the recommended universal screening panel based on evidence that early corticosteroid treatment... 
DIAGNOSIS | PHENOTYPE | EXPERIENCE | MUTATIONS | CLINICAL NEUROLOGY | CREATINE-KINASE | FEMALE | DYSTROPHINOPATHY
Journal Article
Clinical Endocrinology, ISSN 0300-0664, 10/2014, Volume 81, Issue 4, pp. 606 - 609
ObjectivePopulation iodine status can be assessed by urinary iodine concentrations, prevalence of goitre, frequency of newborn thyroid-stimulating hormone... 
DISORDERS | DEFICIENCY | ENDOCRINOLOGY & METABOLISM | Thyroglobulin - blood | Goiter - blood | Wales - epidemiology | Humans | Infant, Newborn | Iodine - urine | Thyrotropin - blood | Infants (Newborn) | Thyrotropin
Journal Article
Journal Article
Annals of Clinical Biochemistry, ISSN 0004-5632, 7/2008, Volume 45, Issue 4, pp. 345 - 348
Journal Article
BMC Psychiatry, ISSN 1471-244X, 04/2009, Volume 9, Issue 1, pp. 14 - 14
This correction reports changes in our protocol since its publication. These include changes to authorship and acknowledgements, together with improvements to... 
Journal Article
Brain, ISSN 0006-8950, 02/2008, Volume 131, Issue 2, pp. 368 - 380
Opa3 mRNA is expressed in all tissues examined to date, but currently the function of the OPA3 protein is unknown. Intriguingly, various mutations in the OPA3... 
Journal Article
Arteriosclerosis, Thrombosis, and Vascular Biology: Journal of the American Heart Association, ISSN 1079-5642, 07/2001, Volume 21, Issue 7, pp. 1196 - 1202
Journal Article
JAMA Neurology, ISSN 2168-6149, 01/2016, Volume 73, Issue 1, pp. 111 - 111
Duchenne muscular dystrophy (DMD) is a candidate for the recommended universal screening panel based on evidence that early corticosteroid treatment improves... 
Journal Article
by Keller, Rebecca and Chrastina, Petr and Pavlíková, Markéta and Gouveia, Sofía and Ribes, Antonia and Kölker, Stefan and Blom, Henk J and Baumgartner, Matthias R and Bártl, Josef and Dionisi‐Vici, Carlo and Gleich, Florian and Morris, Andrew A and Kožich, Viktor and Huemer, Martina and Barić, Ivo and Ben‐Omran, Tawfeq and Blasco‐Alonso, Javier and Bueno Delgado, Maria A and Carducci, Claudia and Cassanello, Michela and Cerone, Roberto and Couce, Maria Luz and Crushell, Ellen and Delgado Pecellin, Carmen and Dulin, Elena and Espada, Mercedes and Ferino, Giulio and Fingerhut, Ralph and Garcia Jimenez, Immaculada and Gonzalez Gallego, Immaculada and González‐Irazabal, Yolanda and Gramer, Gwendolyn and Juan Fita, Maria Jesus and Karg, Eszter and Klein, Jeanette and Konstantopoulou, Vassiliki and la Marca, Giancarlo and Leão Teles, Elisa and Leuzzi, Vincenzo and Lilliu, Franco and Lopez, Rosa Maria and Lund, Allan M and Mayne, Philip and Meavilla, Silvia and Moat, Stuart J and Okun, Jürgen G and Pasquini, Elisabeta and Pedron‐Giner, Consuélo Carmen and Racz, Gabor Zoltan and Ruiz Gomez, Maria Angeles and Vilarinho, Laura and Yahyaoui, Raquel and Zerjav Tansek, Moja and Zetterström, Rolf H and Zeyda, Maximilian and Individual Contributors European N and and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) and and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E‐HOD)
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 01/2019, Volume 42, Issue 1, pp. 128 - 139
PurposeTo assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. MethodsTwenty-two of 32 NBS... 
MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | COHORTS | MANAGEMENT | BIOMARKER | GUIDELINES | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | CBLC | EXPERIENCE | REMETHYLATION DISORDERS | DEFICIENCY | Neonates | Homocystinuria | Phenylalanine | Methionine | Methylenetetrahydrofolate reductase | Birth weight | Methionine adenosyltransferase | Homocysteine | Medical screening | Gestational age
Journal Article
Circulation, ISSN 0009-7322, 05/2007, Volume 115, Issue 17, pp. 2262 - 2270
Background - Although dietary folate fortification lowers plasma homocysteine and may reduce cardiovascular risk, high-dose folic acid therapy appears to not... 
Oxidative stress | Magnetic resonance imaging | Nitric oxide | Folic acid | Atherosclerosis | atherosclerosis | UNITED-STATES | nitric oxide | magnetic resonance imaging | CARDIAC & CARDIOVASCULAR SYSTEMS | RISK-FACTORS | MYOCARDIAL-INFARCTION | SUPEROXIDE-PRODUCTION | NITRIC-OXIDE SYNTHASE | ENDOTHELIAL FUNCTION | PERFORMANCE LIQUID-CHROMATOGRAPHY | HOMOCYSTEINE LEVELS | NAD(P)H OXIDASE | PERIPHERAL VASCULAR DISEASE | folic acid | DIETARY-FOLATE | oxidative stress | Vitamin B Complex - pharmacokinetics | Humans | Middle Aged | Endothelium, Vascular - drug effects | Male | Folic Acid - administration & dosage | Vitamin B Complex - administration & dosage | Coronary Vessels - metabolism | Pulsatile Flow - drug effects | Coronary Artery Disease - pathology | Superoxides - metabolism | Female | Coronary Vessels - drug effects | Coronary Vessels - pathology | Oxidation-Reduction | Coronary Artery Disease - metabolism | Treatment Outcome | Coronary Artery Disease - drug therapy | Folic Acid - pharmacokinetics | Tetrahydrofolates - metabolism | Magnetic Resonance Imaging | Endothelium, Vascular - metabolism | Folic Acid - blood | Endothelium, Vascular - pathology | Aged | Coronary Circulation - drug effects | Oxidative Stress - drug effects | Vitamin B Complex - blood | Tetrahydrofolates - blood | Blood Flow Velocity - drug effects | Care and treatment | Dosage and administration | Coronary heart disease | Health aspects | Patient outcomes
Journal Article
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