ALLMedicine Inborn Errors Of Metabolism Center

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...

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...

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...

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

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...

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...

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.

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...

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 ...

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...

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...

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...

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...

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

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...

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.

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...

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...

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...

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...