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About 2,478 results

ALLMedicine™ Inborn Errors Of Metabolism Center

Research & Reviews  1,223 results

Spectrum of microarchitectural bone disease in inborn errors of metabolism: a cross-sec...
https://doi.org/10.1186/s13023-020-01521-6
Orphanet Journal of Rare Diseases; Sidhu K, Ali B et. al.

Sep 17th, 2020 - Patients diagnosed with inborn errors of metabolism (IBEM) often present with compromised bone health leading to low bone density, bone pain, fractures, and short stature. Dual-energy X-ray absorptiometry (DXA) is the current gold standard for cli...

Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children wi...
https://doi.org/10.1007/s10803-020-04682-2
Journal of Autism and Developmental Disorders; Márquez-Caraveo ME, Ibarra-González I et. al.

Sep 3rd, 2020 - The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood sampl...

Recent developments in diagnostics and treatment of neonatal cholestasis.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7459146
Seminars in Pediatric Surgery; Feldman AG, Sokol RJ

Aug 30th, 2020 - Neonatal cholestasis is characterized by conjugated hyperbilirubinemia in the newborn and young infant and is a sign common to over 100 hepatobiliary and/or metabolic disorders. A timely evaluation for its etiology is critical in order to quickly ...

Long-chain fatty acid oxidation disorders: managed care and specialty pharmacy implicat...
https://doi.org/10.37765/ajmc.2020.88479
The American Journal of Managed Care; Pannier A

Aug 25th, 2020 - Long-chain fatty acid oxidation disorders (LC-FAODs) represent a group of rare inborn errors of metabolism characterized by acute crises of energy metabolism and severe energy deficiency. Clinical manifestations include rhabdomyolysis, liver dysfu...

Stability of 0.5% Glucose-Containing Balanced Electrolyte Solutions for Patients on Ket...
https://doi.org/10.1055/s-0040-1715634
Neuropediatrics Heiderich S, Dennhardt N et. al.

Aug 25th, 2020 - Ketogenic diets (KDs) are used to treat epilepsies resistant to pharmacotherapy or some inborn errors of metabolism. For prolonged anesthesia, use of balanced electrolyte solutions (BESs) supplemented with 0.5% glucose has been advocated to mainta...

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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  1,241 results

Spectrum of microarchitectural bone disease in inborn errors of metabolism: a cross-sec...
https://doi.org/10.1186/s13023-020-01521-6
Orphanet Journal of Rare Diseases; Sidhu K, Ali B et. al.

Sep 17th, 2020 - Patients diagnosed with inborn errors of metabolism (IBEM) often present with compromised bone health leading to low bone density, bone pain, fractures, and short stature. Dual-energy X-ray absorptiometry (DXA) is the current gold standard for cli...

Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children wi...
https://doi.org/10.1007/s10803-020-04682-2
Journal of Autism and Developmental Disorders; Márquez-Caraveo ME, Ibarra-González I et. al.

Sep 3rd, 2020 - The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood sampl...

Recent developments in diagnostics and treatment of neonatal cholestasis.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7459146
Seminars in Pediatric Surgery; Feldman AG, Sokol RJ

Aug 30th, 2020 - Neonatal cholestasis is characterized by conjugated hyperbilirubinemia in the newborn and young infant and is a sign common to over 100 hepatobiliary and/or metabolic disorders. A timely evaluation for its etiology is critical in order to quickly ...

Long-chain fatty acid oxidation disorders: managed care and specialty pharmacy implicat...
https://doi.org/10.37765/ajmc.2020.88479
The American Journal of Managed Care; Pannier A

Aug 25th, 2020 - Long-chain fatty acid oxidation disorders (LC-FAODs) represent a group of rare inborn errors of metabolism characterized by acute crises of energy metabolism and severe energy deficiency. Clinical manifestations include rhabdomyolysis, liver dysfu...

Stability of 0.5% Glucose-Containing Balanced Electrolyte Solutions for Patients on Ket...
https://doi.org/10.1055/s-0040-1715634
Neuropediatrics Heiderich S, Dennhardt N et. al.

Aug 25th, 2020 - Ketogenic diets (KDs) are used to treat epilepsies resistant to pharmacotherapy or some inborn errors of metabolism. For prolonged anesthesia, use of balanced electrolyte solutions (BESs) supplemented with 0.5% glucose has been advocated to mainta...

see more →

News  3 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...

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 →