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About 1,553 results

ALLMedicine™ Inborn Errors Of Metabolism Center

Research & Reviews  568 results

Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patient...
https://doi.org/10.1002/ajmg.a.62659
American Journal of Medical Genetics. Part A; Pritchard AB, Izumi K et. al.

Jan 25th, 2022 - Liver transplantation (LT) has been used for many years as a therapeutic option for certain inborn errors of metabolism (IEMs). Here we present one institution's 27 years of experience with LT in IEMs. Our objective is to assess the outcomes of IE...

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

Jan 6th, 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...

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

Dec 16th, 2021 - 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...

Functional neurologic disorders in an adult with propionic acidemia: a case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8607611
BMC Psychiatry; Tarrada A, Frismand-Kryloff S et. al.

Nov 24th, 2021 - Inborn errors of metabolism are often characterized by various psychiatric syndromes. Previous studies tend to classify psychiatric manifestations into clinical entities. Among inborn errors of metabolism, propionic acidemia (PA) is a rare inherit...

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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 10.1007/s10545-008-0986-7 10.1007/s10545-016-9941-1 10.1007/978-94-009-5778-7 10.3109/10408369509084689 10.1542/peds.105.1.e10 10.1373/clinchem.2009.131300 10.1007/s10545-011-9423-4 10.7861/clinmedicine.16-6-524 10.1007/8904_2016_25 10.1007/8904_2016_537 10.5339/qmj.2015.9 10.1016/j.clinbiochem.2013.08.009 10.1016/j.ymgme.2014.07.018 10.1038/gim.2017.61 10.1016/j.ymgme.2012.10.019 10.1016/0009-8981(91)90355-G 10.1007/978-1-60761-459-3_41 10.1016/j.cca.2008.02.025 10.1016/0378-4347(91)80571-S 10.1620/tjem.237.235 10.1007/s10545-007-0767-8 10.1016/j.jchromb.2004.03.048 10.1016/0378-4347(92)80256-P 10.1007/s10545-008-1025-4 10.1016/j.ymgme.2012.05.024 10.1111/cge.12297 10.1016/j.cca.2011.09.008 10.1016/j.ymgme.2005.09.007 10.1038/ng.908 10.1016/j.ymgme.2015.06.008 10.1007/s10545-014-9801-9 10.1016/j.ymgmr.2016.09.001 10.1007/8904_2016_536 10.1016/j.ymgme.2016.03.001 10.1007/s10545-010-9242-z 10.1016/j.ymgme.2010.04.014 10.1373/clinchem.2004.043265 10.1016/j.mito.2010.02.006 10.1016/S0022-3476(89)80706-1 10.1007/s10545-007-0396-2
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  13 results see all →

Clinicaltrials.gov  18 results

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

Jan 6th, 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...

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

Dec 16th, 2021 - 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...

Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Inborn Errors of Metabolism (iPSC-IEM)
https://clinicaltrials.gov/ct2/show/NCT04097275

May 17th, 2021 - Human induced pluripotent stem cells (iPSCs), are reprogrammed from somatic cells that can self-renew indefinitely and produce different types of cells. They provide human model cell lines for orphan drug development. It is the goal of this study ...

Biomarker for Creatine Deficiency Syndromes (BioCDS)
https://clinicaltrials.gov/ct2/show/NCT02934854

May 13th, 2021 - The Creatine Deficiency Syndromes (CDS) are a group of inborn errors of metabolism which interrupt the biosynthesis or transportation of creatine. Individuals with CDS classically present neurological symptoms (seizures, movement disorders and myo...

Tolerability and Efficacy of L-Serine in Patients With GRIN-related Encephalopathy
https://clinicaltrials.gov/ct2/show/NCT04646447

Nov 30th, 2020 - GRIN-related disorders, a novel group of IEM (inborn errors of metabolism): Mutations on GRIN genes, encoding for the N-methyl-D-Aspartate receptor (NMDAR) subunits, have been recently associated with autosomic dominant GRIN-related disorders (Lem...

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News  16 results

Congenital Heart Disease Flagged By Heel Stick Blood?
https://www.medpagetoday.com/pediatrics/generalpediatrics/89974

Dec 2nd, 2020 - A new biomarker test using routinely-collected dried blood samples could facilitate detection of congenital heart disease (CHD) in newborns, a pilot study showed. Performed as early as 2 days after birth, a dried blood spot (DBS) test for NT-proBN...

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...

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.

Quick Finger-prick Test Reliably Monitors Clozapine Levels
https://www.staging.medscape.com/viewarticle/864499

Jun 8th, 2016 - SCOTTSDALE, Arizona ― A quick, inexpensive test that uses a drop of blood from a finger prick can be used to reliably detect and monitor therapeutic plasma levels of clozapine (multiple brands), new research shows. "Therapeutic drug monitoring dur...

Dark spots on child’s back
https://www.mdedge.com/familymedicine/article/101067/pediatrics/dark-spots-childs-back
The Journal of Family Practice;

Jul 10th, 2015 - The FP recognized this as a case of dermal melanocytosis, also known as Mongolian spots. She reassured the mother that the spots would fade over time and were not dangerous.

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Patient Education  2 results see all →