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About 2,456 results

ALLMedicine Inborn Errors Of Metabolism Center

Research & Reviews  1,201 results

A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Scr...
https://doi.org/10.3390/ijerph17103601
International Journal of Environmental Research and Public Health; Rossi C, Cicalini I et. al.

May 23rd, 2020 - Methylmalonic Acidurias (MMAs) are a group of inborn errors of metabolism (IEMs), specifically of propionate catabolism characterized by gastrointestinal and neurometabolic manifestations resulting from a deficiency in the function of methylmalony...

Evaluation of Strategies Aimed at Improving Liver Progenitor Cell Rolling and Subsequen...
https://doi.org/10.1177/0963689720912707
Cell Transplantation; Dollet PE, Hsu MJ et. al.

May 18th, 2020 - Adult-derived human liver stem/progenitor cells (ADHLSCs) are a promising alternative to orthotopic liver transplantation in the treatment of inborn errors of metabolism. However, as is the case with many mesenchymal stromal cells, ADHLSCs have sh...

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enz...
https://doi.org/10.1002/jimd.12255
Journal of Inherited Metabolic Disease; Mohamed M, Gardeitchik T et. al.

May 17th, 2020 - Inherited cutis laxa, or inelastic, sagging skin is a genetic condition of premature and generalized connective tissue aging, affecting various elastic components of the extracellular matrix. Several cutis laxa syndromes are inborn errors of metab...

Social media, alternative metrics and inborn errors of metabolism.
https://doi.org/10.1002/jimd.12239
Journal of Inherited Metabolic Disease REFERENCES; Nurse J, Morava E

Apr 22nd, 2020 - Social media, alternative metrics and inborn errors of metabolism.|2020|Nurse J,Morava E,|

LC-MS/MS method for the differential diagnosis of treatable early onset inherited metab...
https://doi.org/10.1002/jimd.12244
Journal of Inherited Metabolic Disease REFERENCES; Mathis D, Beese K et. al.

Apr 22nd, 2020 - Rapid diagnosis and early specific treatment of metabolic epilepsies due to inborn errors of metabolism (IEMs) is crucial to avoid irreversible sequalae. Nowadays, besides the profile analysis of amino- and organic acids, a range of additional tar...

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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 College of Medical Genetics; 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 Mortality Weekly Report. Recommendations and Reports;

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...

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Drugs  3 results see all →

Clinicaltrials.gov  1,231 results

A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Scr...
https://doi.org/10.3390/ijerph17103601
International Journal of Environmental Research and Public Health; Rossi C, Cicalini I et. al.

May 23rd, 2020 - Methylmalonic Acidurias (MMAs) are a group of inborn errors of metabolism (IEMs), specifically of propionate catabolism characterized by gastrointestinal and neurometabolic manifestations resulting from a deficiency in the function of methylmalony...

Evaluation of Strategies Aimed at Improving Liver Progenitor Cell Rolling and Subsequen...
https://doi.org/10.1177/0963689720912707
Cell Transplantation; Dollet PE, Hsu MJ et. al.

May 18th, 2020 - Adult-derived human liver stem/progenitor cells (ADHLSCs) are a promising alternative to orthotopic liver transplantation in the treatment of inborn errors of metabolism. However, as is the case with many mesenchymal stromal cells, ADHLSCs have sh...

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enz...
https://doi.org/10.1002/jimd.12255
Journal of Inherited Metabolic Disease; Mohamed M, Gardeitchik T et. al.

May 17th, 2020 - Inherited cutis laxa, or inelastic, sagging skin is a genetic condition of premature and generalized connective tissue aging, affecting various elastic components of the extracellular matrix. Several cutis laxa syndromes are inborn errors of metab...

Social media, alternative metrics and inborn errors of metabolism.
https://doi.org/10.1002/jimd.12239
Journal of Inherited Metabolic Disease REFERENCES; Nurse J, Morava E

Apr 22nd, 2020 - Social media, alternative metrics and inborn errors of metabolism.|2020|Nurse J,Morava E,|

LC-MS/MS method for the differential diagnosis of treatable early onset inherited metab...
https://doi.org/10.1002/jimd.12244
Journal of Inherited Metabolic Disease REFERENCES; Mathis D, Beese K et. al.

Apr 22nd, 2020 - Rapid diagnosis and early specific treatment of metabolic epilepsies due to inborn errors of metabolism (IEMs) is crucial to avoid irreversible sequalae. Nowadays, besides the profile analysis of amino- and organic acids, a range of additional tar...

see more →

News  13 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.

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...

Recommended Childhood Vaccines Safe for Children With Inborn Errors of Metabolism
https://www.medscape.com/viewarticle/711807

Nov 3rd, 2009 - November 4, 2009 (Philadelphia, Pennsylvania) — Childhood vaccines are safe for children with inborn errors of metabolism (IEM), according to results of a retrospective study from a large healthcare system presented here at the Infectious Diseases...

Collaborative Database Uses Newborn Blood Spot Screening to Detect Children With Genetic Abnormalities
https://www.medscape.com/viewarticle/711278

Oct 25th, 2009 - October 26, 2009 (Honolulu, Hawaii) — A study investigating the use of a long-term follow-up database of children with inborn errors of metabolism has shown that metabolic practitioners can systematically gather information about outcomes from new...

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...

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Patient Education  3 results see all →