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About 1,930 results

ALLMedicine™ Inborn Errors Of Metabolism Center

Research & Reviews  687 results

Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol
https://clinicaltrials.gov/ct2/show/NCT02322177

Aug 12th, 2022 - Women with inherited metabolic disorders are reaching child bearing age more often due to advances in early diagnosis and improved pediatric care. For many of these disorders, there is very little information in the literature to guide the counsel...

The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
https://clinicaltrials.gov/ct2/show/NCT01780168

Aug 12th, 2022 - The biochemical perturbations in children with inborn errors of metabolism (IEM) may affect their immune response. As a result, this will not only increase risk for infection but also hamper their ability to develop protective immunity after vacci...

Different platforms for mitomiRs in mitochondria: Emerging facets in regulation of mito...
https://doi.org/10.1016/j.mito.2022.08.003
Mitochondrion Gohel D, Singh R

Aug 10th, 2022 - Mitochondria are one of the central organelles involved in cellular energy metabolism and play a regulatory role in various human pathologies ranging from inborn errors of metabolism, cancer, inflammation, and infections. Mitochondrial DNA encodes...

Biochemical testing for inborn errors of metabolism: experience from a large tertiary n...
https://doi.org/10.1007/s00431-022-04588-4
European Journal of Pediatrics; Dunne E, O'Reilly D et. al.

Aug 10th, 2022 - Inborn errors of metabolism are an individually rare but collectively significant cause of mortality and morbidity in the neonatal period. They are identified by either newborn screening programmes or clinician-initiated targeted biochemical scree...

Case Report: Dystonic Storm Following Japanese Encephalitis Virus Infection.
https://doi.org/10.4269/ajtmh.22-0020
The American Journal of Tropical Medicine and Hygiene; Ghosh R, Dubey S et. al.

Aug 9th, 2022 - Dystonic storm (also called status dystonicus) is a neurological emergency characterized by sustained/intermittent involuntary generalized muscle contractions resulting in repetitive painful twisting movements and abnormal postures. It is commonly...

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Guidelines  4 results

ACOG Committee Opinion No. 771: Umbilical Cord Blood Banking.
https://doi.org/10.1097/AOG.0000000000003128
Obstetrics and Gynecology;

Feb 26th, 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 16th, 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 6th, 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 4th, 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  14 results see all →

Clinicaltrials.gov  43 results

Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol
https://clinicaltrials.gov/ct2/show/NCT02322177

Aug 12th, 2022 - Women with inherited metabolic disorders are reaching child bearing age more often due to advances in early diagnosis and improved pediatric care. For many of these disorders, there is very little information in the literature to guide the counsel...

The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
https://clinicaltrials.gov/ct2/show/NCT01780168

Aug 12th, 2022 - The biochemical perturbations in children with inborn errors of metabolism (IEM) may affect their immune response. As a result, this will not only increase risk for infection but also hamper their ability to develop protective immunity after vacci...

Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
https://clinicaltrials.gov/ct2/show/NCT00369421

Aug 9th, 2022 - We propose to characterize the etiology and natural history of rare inborn errors of metabolism and other genetic disorders, both known and yet-to-be discovered. In so doing, we will expand our knowledge about these disorders and provide access to...

Genetic and Metabolic Disease in Children
https://clinicaltrials.gov/ct2/show/NCT02650622

Jun 30th, 2022 - Discovery of genetic basis of impaired metabolism has greatly advanced treatment of patients with known metabolic diseases. However, many more genetic and metabolic disorders and their molecular causes remain to be discovered. The overall goal of ...

Dried Blood Spot Testing for At Home Health
https://clinicaltrials.gov/ct2/show/NCT05430139

Jun 24th, 2022 - Remote phlebotomy services have long been an option for remote communities, yet through the pandemic there has been an apparent decline in these facilities likely driven by a lack of financial incentive for community laboratories; outpatient test ...

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News  21 results

Move Over Supplements, Here Come Medical Foods
https://www.medscape.com/viewarticle/933245

Jul 1st, 2020 - As the US Food and Drug Administration (FDA) focuses on other issues, companies, both big and small, are looking to boost physician and consumer interest in their "medical foods" — products that fall somewhere between drugs and supplements and pro...

Rising microbiome investigator: Ting-Chin David Shen, MD, PhD
https://www.mdedge.com/gihepnews/article/178035/mixed-topics/rising-microbiome-investigator-ting-chin-david-shen-md-phd

Oct 24th, 2018 - We spoke with Dr. Shen, instructor of medicine at the University of Pennsylvania and the recipient of the AGA Research Foundation’s 2016 Microbiome Junior Investigator Award, to learn about his passion for gut microbiome research.

Kids may have higher risk of death long after allo-HSCT
https://www.mdedge.com/hematology-oncology/article/184817/transplantation/kids-may-have-higher-risk-death-long-after-allo-hsct
HT Staff

Jul 30th, 2018 - Photo from UAB Smita Bhatia Children may have an increased risk of premature death decades after allogeneic hematopoietic stem cell transplant (allo-HSCT), according to a study published in JAMA Oncology. The leading causes of death in the patient.

Decades Later, Mortality for Childhood Transplant Recipients Remains High
https://www.medpagetoday.com/hematologyoncology/leukemia/74296

Jul 27th, 2018 - Survivors of childhood leukemias and other serious hematologic diseases requiring allogeneic blood or marrow transplant (BMT) remained at elevated risk for death, even 25 years post-transplant, according to a retrospective cohort study. An analysi...

Allele-matching in cord blood transplant yields better survival
https://www.mdedge.com/pediatrics/article/142911/bleeding-disorders/allele-matching-cord-blood-transplant-yields-better
Thomas R. Collins

Jul 20th, 2017 - Matching down to the allele level in umbilical cord blood transplantation between unrelated donors results in greater overall survival for those with nonmalignant diseases, such as aplastic anemia, researchers found in a retrospective study publis.

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Patient Education  3 results see all →