ALLMedicine™ Inborn Errors Of Metabolism Center
Research & Reviews 1,275 results
https://doi.org/10.1002/aur.2486
Autism Research : Official Journal of the International S... İnci A, Özaslan A et. al.
Feb 19th, 2021 - In this study, the aim was to examine patients with inborn errors of metabolism (IEM) who presented with only autism, without any other findings, to suggest any other neurological and genetic disorders. To investigate IEM, data of the hospital rec...
https://doi.org/10.1111/jpc.15365
Journal of Paediatrics and Child Health; Hertzog A, Selvanathan A et. al.
Feb 15th, 2021 - Purpuric, delayed child: Beyond septicaemia and into inborn errors of metabolism.|2021|Hertzog A,Selvanathan A,Tolun AA,Parayil Sankaran B,Bhattacharya K,|
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7878905
Nature Communications; Cheng Y, Schlosser P et. al.
Feb 12th, 2021 - Metabolite levels in urine may provide insights into genetic mechanisms shaping their related pathways. We therefore investigate the cumulative contribution of rare, exonic genetic variants on urine levels of 1487 metabolites and 53,714 metabolite...
https://doi.org/10.1002/jimd.12365
Journal of Inherited Metabolic Disease; van Rijt WJ, Van Hove JLK et. al.
Feb 5th, 2021 - D,L-3-hydroxybutyrate (D,L-3-HB, a ketone body) treatment has been described in several inborn errors of metabolism, including multiple acyl-CoA dehydrogenase deficiency (MADD; glutaric aciduria type II). We aimed to improve the understanding of e...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7868218
BMJ Case Reports; Sangeetha G, Chandran S et. al.
Feb 5th, 2021 - Alkaptonuria is a rare genetic disorder resulting in abnormality of tyrosine metabolism. It is one of the Garrod's tetrad of 'inborn errors of metabolism' proposed to have Mendelian recessive inheritance. The disorder is characterised by depositio...
Guidelines 5 results
https://doi.org/10.1097/AOG.0000000000003128
Obstetrics and Gynecology;
Feb 25th, 2019 - Since the first successful umbilical cord blood transplant in 1988, it has been estimated that more than 35,000 transplants have been performed in children and adults for the correction of inborn errors of metabolism, hematopoietic malignancies, a...
https://www.acog.org/Clinical-Guidance-and-Publications/Committee-Opinions/Committee-on-Genetics/Umbilical-Cord-Blood-Banking
Feb 20th, 2019 - Since the first successful umbilical cord blood transplant in 1988, it has been estimated that more than 35,000 transplants have been performed in children and adults for the correction of inborn errors of metabolism, hematopoietic malignancies, a.
https://doi.org/10.1038/gim.2018.45
Genetics in Medicine : Official Journal of the American C... Gallagher RC, Pollard L et. al.
Mar 15th, 2018 - Organic acid analysis detects accumulation of organic acids in urine and other body fluids and is a crucial first-tier laboratory test for a broad spectrum of inborn errors of metabolism. It is also frequently ordered as follow-up for a positive n...
https://www.ncbi.nlm.nih.gov/pubmed/22475884
MMWR. Recommendations and Reports : Morbidity and Mortali...
Apr 5th, 2012 - Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. Under the Clinical Laboratory Improvement ...
https://doi.org/10.1373/clinchem.2009.131300
Clinical Chemistry; Dietzen DJ, Rinaldo P et. al.
Jul 3rd, 2009 - Almost all newborns in the US are screened at birth for multiple inborn errors of metabolism using tandem mass spectrometry. Screening tests are designed to be sufficiently sensitive so that cases are not missed. The NACB recognized a need for sta...
Drugs 3 results see all →
Clinicaltrials.gov 1,299 results
https://doi.org/10.1002/aur.2486
Autism Research : Official Journal of the International S... İnci A, Özaslan A et. al.
Feb 19th, 2021 - In this study, the aim was to examine patients with inborn errors of metabolism (IEM) who presented with only autism, without any other findings, to suggest any other neurological and genetic disorders. To investigate IEM, data of the hospital rec...
https://doi.org/10.1111/jpc.15365
Journal of Paediatrics and Child Health; Hertzog A, Selvanathan A et. al.
Feb 15th, 2021 - Purpuric, delayed child: Beyond septicaemia and into inborn errors of metabolism.|2021|Hertzog A,Selvanathan A,Tolun AA,Parayil Sankaran B,Bhattacharya K,|
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7878905
Nature Communications; Cheng Y, Schlosser P et. al.
Feb 12th, 2021 - Metabolite levels in urine may provide insights into genetic mechanisms shaping their related pathways. We therefore investigate the cumulative contribution of rare, exonic genetic variants on urine levels of 1487 metabolites and 53,714 metabolite...
https://doi.org/10.1002/jimd.12365
Journal of Inherited Metabolic Disease; van Rijt WJ, Van Hove JLK et. al.
Feb 5th, 2021 - D,L-3-hydroxybutyrate (D,L-3-HB, a ketone body) treatment has been described in several inborn errors of metabolism, including multiple acyl-CoA dehydrogenase deficiency (MADD; glutaric aciduria type II). We aimed to improve the understanding of e...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7868218
BMJ Case Reports; Sangeetha G, Chandran S et. al.
Feb 5th, 2021 - Alkaptonuria is a rare genetic disorder resulting in abnormality of tyrosine metabolism. It is one of the Garrod's tetrad of 'inborn errors of metabolism' proposed to have Mendelian recessive inheritance. The disorder is characterised by depositio...
News 7 results
https://www.mdedge.com/pediatrics/article/98612/rare-diseases/genetic-tests-children-intellectual-disability-or-global
Apr 8th, 2015 - A new clinical report from the American Academy of Pediatrics (AAP) makes recommendations regarding the clinical genetics diagnostic approach for children with intellectual disability (ID) or global developmental delays (GDDs). Chromosome microarr.
https://www.medscape.com/viewarticle/827817_9
Jul 9th, 2014 - Genetic Diagnosis and Counseling MCAD deficiency, like other inborn errors of metabolism, is increasingly recognized not as a dichotomous condition but rather as a spectrum of enzyme deficiency states caused by different mutations in the ACADM gen...
https://www.medpagetoday.com/cardiology/hearttransplantation/41419
Sep 6th, 2013 - Action Points The causes of disease, its subtypes, and risk factors present at the time a child is diagnosed with hypertrophic cardiomyopathy can help predict the likelihood of death or need for heart transplantation. Note that the worst prognosis...
https://www.medpagetoday.com/cardiology/chf/4331
Oct 19th, 2006 - Action Points Explain to parents who ask that dilated cardiomyopathy in infants and children is most often idiopathic. In 34%, the etiology is myocarditis and neuromuscular disorders as well as familial disease, inborn errors of metabolism, and ma...
https://www.medscape.com/viewarticle/501607
Apr 21st, 2005 - This feature requires the newest version of Flash. You can download it here. To screen or not to screen -- that is the question. Or is it? Actually, the use of screening in medicine is essential. It is defined as "sifting for the presence of disea...