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About 2,628 results

ALLMedicine™ Inborn Errors Of Metabolism Center

Research & Reviews  1,293 results

Monitoring mammalian mitochondrial translation with MitoRiboSeq.
https://doi.org/10.1038/s41596-021-00517-1 10.1038/s41556-018-0124-1 10.1016/j.bbamcr.2008.05.028 10.1534/genetics.112.141267 10.1146/annurev-genom-082509-141720 10.1056/NEJMra022567 10.1016/j.biocel.2013.12.011 10.1016/j.bbabio.2011.06.010 10.1016/j.ymgmr.2016.02.003 10.1073/pnas.0500563102 10.1016/j.ccr.2011.10.015 10.1016/j.cell.2013.05.039 10.1038/nrc3365 10.1016/j.drudis.2007.07.013 10.1126/scitranslmed.3006055 10.1126/science.1168978 10.7554/eLife.08890 10.1126/science.aay0262 10.1126/science.1257521 10.1126/science.1257522 10.1038/nature16982 10.1016/j.cell.2014.02.033 10.1016/j.cell.2011.10.002 10.1073/pnas.1317811111 10.7554/eLife.16950 10.1021/bi00631a031 10.1126/science.aaa1193 10.1038/s41586-018-0373-y 10.1038/290465a0 10.1016/j.bbabio.2010.02.036 10.1038/nature25460 10.1038/nprot.2012.086 10.1016/j.ymeth.2017.05.028 10.1016/bs.mie.2018.08.031 10.1038/ncomms3886 10.1002/cpmb.41 10.1038/nature18015 10.7554/eLife.27596 10.1093/nar/gkz205 10.1016/j.mito.2009.08.001 10.1016/S0021-9258(19)44656-5 10.1016/j.celrep.2019.09.080 10.1128/mBio.00010-20 10.1038/nature21036 10.1073/pnas.1817299116 10.7554/eLife.42591 10.1093/nar/gky379 10.1080/15476286.2016.1141862 10.1093/bioinformatics/bty350 10.1038/s41592-018-0046-7 10.1186/s12864-016-3278-x 10.1093/nar/gkw944 10.1016/j.celrep.2015.03.014 10.1016/j.cell.2011.10.044 10.1016/S0005-2728(98)00161-3 10.1042/EBC20170102 10.14806/ej.17.1.200 10.1093/bioinformatics/btp698 10.1093/bioinformatics/btw354 10.1038/nbt.1754 10.21105/joss.01686 10.12688/wellcomeopenres.13119.2
Nature Protocols; Li SH, Nofal M et. al.

May 6th, 2021 - Several essential components of the electron transport chain, the major producer of ATP in mammalian cells, are encoded in the mitochondrial genome. These 13 proteins are translated within mitochondria by 'mitoribosomes'. Defective mitochondrial t...

Cystic fibrosis in disguise - the wolf in sheep's clothing, a case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8048214
BMC Pediatrics; Wilbert F, Grünert SC et. al.

Apr 15th, 2021 - Childhood hypoglycemia in combination with hepatomegaly is suspicious for inborn errors of metabolism. Cystic fibrosis typically presents with failure to thrive, pulmonary and gastrointestinal symptoms. Hepatic involvement and hypoglycemia can occ...

Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inbo...
https://doi.org/10.1002/jimd.12385
Journal of Inherited Metabolic Disease; Steinbusch LK, Wang P et. al.

Apr 12th, 2021 - The current diagnostic work-up of inborn errors of metabolism (IEM) is rapidly moving towards integrative analytical approaches. We aimed to develop an innovative, targeted urine metabolomics (TUM) screening procedure to accelerate the diagnosis o...

A generic emergency protocol for patients with inborn errors of metabolism causing fast...
https://doi.org/10.1002/jimd.12386
Journal of Inherited Metabolic Disease; Rossi A, Hoogeveen IJ et. al.

Apr 12th, 2021 - Patients with inborn errors of metabolism causing fasting intolerance can experience acute metabolic decompensations. Long-term data on outcomes using emergency letters are lacking. This is a retrospective, observational, single-center study of th...

Two patients from Turkey with a novel variant in the GM2A gene and review of the litera...
https://doi.org/10.1515/jpem-2020-0655
Journal of Pediatric Endocrinology & Metabolism : JPEM; İnci A, Cengiz Ergin FB et. al.

Apr 5th, 2021 - GM2 gangliosidosis is a rare form of inborn errors of metabolism including Tay-Sachs disease, Sandhoff disease, and GM2 activator deficiency. GM2 activator protein deficiency is an ultra-rare form of GM2 gangliosidosis. To date, 16 cases of GM2 ac...

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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 C... 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 Mortali...

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  1,317 results

Monitoring mammalian mitochondrial translation with MitoRiboSeq.
https://doi.org/10.1038/s41596-021-00517-1 10.1038/s41556-018-0124-1 10.1016/j.bbamcr.2008.05.028 10.1534/genetics.112.141267 10.1146/annurev-genom-082509-141720 10.1056/NEJMra022567 10.1016/j.biocel.2013.12.011 10.1016/j.bbabio.2011.06.010 10.1016/j.ymgmr.2016.02.003 10.1073/pnas.0500563102 10.1016/j.ccr.2011.10.015 10.1016/j.cell.2013.05.039 10.1038/nrc3365 10.1016/j.drudis.2007.07.013 10.1126/scitranslmed.3006055 10.1126/science.1168978 10.7554/eLife.08890 10.1126/science.aay0262 10.1126/science.1257521 10.1126/science.1257522 10.1038/nature16982 10.1016/j.cell.2014.02.033 10.1016/j.cell.2011.10.002 10.1073/pnas.1317811111 10.7554/eLife.16950 10.1021/bi00631a031 10.1126/science.aaa1193 10.1038/s41586-018-0373-y 10.1038/290465a0 10.1016/j.bbabio.2010.02.036 10.1038/nature25460 10.1038/nprot.2012.086 10.1016/j.ymeth.2017.05.028 10.1016/bs.mie.2018.08.031 10.1038/ncomms3886 10.1002/cpmb.41 10.1038/nature18015 10.7554/eLife.27596 10.1093/nar/gkz205 10.1016/j.mito.2009.08.001 10.1016/S0021-9258(19)44656-5 10.1016/j.celrep.2019.09.080 10.1128/mBio.00010-20 10.1038/nature21036 10.1073/pnas.1817299116 10.7554/eLife.42591 10.1093/nar/gky379 10.1080/15476286.2016.1141862 10.1093/bioinformatics/bty350 10.1038/s41592-018-0046-7 10.1186/s12864-016-3278-x 10.1093/nar/gkw944 10.1016/j.celrep.2015.03.014 10.1016/j.cell.2011.10.044 10.1016/S0005-2728(98)00161-3 10.1042/EBC20170102 10.14806/ej.17.1.200 10.1093/bioinformatics/btp698 10.1093/bioinformatics/btw354 10.1038/nbt.1754 10.21105/joss.01686 10.12688/wellcomeopenres.13119.2
Nature Protocols; Li SH, Nofal M et. al.

May 6th, 2021 - Several essential components of the electron transport chain, the major producer of ATP in mammalian cells, are encoded in the mitochondrial genome. These 13 proteins are translated within mitochondria by 'mitoribosomes'. Defective mitochondrial t...

Cystic fibrosis in disguise - the wolf in sheep's clothing, a case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8048214
BMC Pediatrics; Wilbert F, Grünert SC et. al.

Apr 15th, 2021 - Childhood hypoglycemia in combination with hepatomegaly is suspicious for inborn errors of metabolism. Cystic fibrosis typically presents with failure to thrive, pulmonary and gastrointestinal symptoms. Hepatic involvement and hypoglycemia can occ...

Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inbo...
https://doi.org/10.1002/jimd.12385
Journal of Inherited Metabolic Disease; Steinbusch LK, Wang P et. al.

Apr 12th, 2021 - The current diagnostic work-up of inborn errors of metabolism (IEM) is rapidly moving towards integrative analytical approaches. We aimed to develop an innovative, targeted urine metabolomics (TUM) screening procedure to accelerate the diagnosis o...

A generic emergency protocol for patients with inborn errors of metabolism causing fast...
https://doi.org/10.1002/jimd.12386
Journal of Inherited Metabolic Disease; Rossi A, Hoogeveen IJ et. al.

Apr 12th, 2021 - Patients with inborn errors of metabolism causing fasting intolerance can experience acute metabolic decompensations. Long-term data on outcomes using emergency letters are lacking. This is a retrospective, observational, single-center study of th...

Two patients from Turkey with a novel variant in the GM2A gene and review of the litera...
https://doi.org/10.1515/jpem-2020-0655
Journal of Pediatric Endocrinology & Metabolism : JPEM; İnci A, Cengiz Ergin FB et. al.

Apr 5th, 2021 - GM2 gangliosidosis is a rare form of inborn errors of metabolism including Tay-Sachs disease, Sandhoff disease, and GM2 activator deficiency. GM2 activator protein deficiency is an ultra-rare form of GM2 gangliosidosis. To date, 16 cases of GM2 ac...

see more →

News  7 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.

Positive Newborn Screen for MCAD -- Now What?
https://www.medscape.com/viewarticle/827817_9

Jul 9th, 2014 - Genetic Diagnosis and Counseling MCAD deficiency, like other inborn errors of metabolism, is increasingly recognized not as a dichotomous condition but rather as a spectrum of enzyme deficiency states caused by different mutations in the ACADM gen...

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...

Should Doctors, Patients, and Others Screen for Diseases?
https://www.medscape.com/viewarticle/501607

Apr 21st, 2005 - This feature requires the newest version of Flash. You can download it here. To screen or not to screen -- that is the question. Or is it? Actually, the use of screening in medicine is essential. It is defined as "sifting for the presence of disea...

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Patient Education  3 results see all →