×
About 2,592 results

ALLMedicine™ Inborn Errors Of Metabolism Center

Research & Reviews  1,275 results

Autism: Screening of inborn errors of metabolism and unexpected 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...

Purpuric, delayed child: Beyond septicaemia and into inborn errors of metabolism.
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,|

Rare genetic variants affecting urine metabolite levels link population variation to in...
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...

Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the tre...
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...

Alkaptonuria in an adolescent boy.
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...

see more →

Guidelines  5 results

ACOG Committee Opinion No. 771: Umbilical Cord Blood Banking.
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...

Umbilical Cord Blood Banking
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.

Laboratory analysis of organic acids, 2018 update: a technical standard of the American...
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...

Good laboratory practices for biochemical genetic testing and newborn screening for inh...
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 ...

National academy of clinical biochemistry laboratory medicine practice guidelines: foll...
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...

see more →

Drugs  3 results see all →

Clinicaltrials.gov  1,299 results

Autism: Screening of inborn errors of metabolism and unexpected 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...

Purpuric, delayed child: Beyond septicaemia and into inborn errors of metabolism.
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,|

Rare genetic variants affecting urine metabolite levels link population variation to in...
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...

Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the tre...
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...

Alkaptonuria in an adolescent boy.
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...

see more →

News  7 results

Genetic tests for children with intellectual disability or global developmental delays
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.

Positive Newborn Screen for MCAD -- Now What?
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...

Factors at Dx Predict Outcome in Children With Bad Hearts
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...

Dilated Cardiomyopathy in Children Differs From Adult Disease
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...

Should Doctors, Patients, and Others Screen for Diseases?
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...

see more →

Patient Education  3 results see all →