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Keywords: inborn errors of metabolism
Journal Article
Effects of miRNAs in inborn error of metabolism and treatment strategies
Postgraduate Medical Journal, qgae201, https://doi.org/10.1093/postmj/qgae201
Published: 07 January 2025
..., distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Metabolism is the name given to all of the chemical reactions in the cell involving thousands of proteins, including enzymes, receptors, and transporters. Inborn errors of metabolism (IEM) are caused...
Journal Article
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
in
Brain
Brain, Volume 144, Issue 9, September 2021, Pages 2659–2669, https://doi.org/10.1093/brain/awab124
Published: 20 August 2021
... at the cell membrane. The description of this syndrome will simplify the identification of undiagnosed cases with similar clinical features. PI4KA phosphoinositol inborn errors of metabolism hypomyelinating leukodystrophy spastic paraplegia Hesperia Foundation, the Asociación Española contra las...
Journal Article
Cardiovascular manifestations of intermediate and major hyperhomocysteinemia due to vitamin B12 and folate deficiency and/or inherited disorders of one-carbon metabolism: a 3.5-year retrospective cross-sectional study of consecutive patients Get access
The American Journal of Clinical Nutrition, Volume 113, Issue 5, May 2021, Pages 1157–1167, https://doi.org/10.1093/ajcn/nqaa432
Published: 10 March 2021
... folate cardiovascular disease risk thromboembolic manifestations inborn errors of metabolism 1-carbon metabolism See corresponding article on page 1081 . Cardiovascular diseases (CVDs) are a leading cause of death worldwide ( 1 ). The WHO defines CVDs as disorders affecting the heart and blood...
Journal Article
Diagnostic yield from routine metabolic screening tests in evaluation of global developmental delay and intellectual disability Get access
Paediatrics & Child Health, Volume 26, Issue 6, October 2021, Pages 344–348, https://doi.org/10.1093/pch/pxaa112
Published: 19 December 2020
...:https://dbpia.nl.go.kr/journals/pages/open_access/funder_policies/chorus/standard_publication_model ) Abstract Global developmental delay and intellectual disability (GDD/ID) affect 3% of the paediatric population. Although inborn errors of metabolism (IEM) are not a common cause of GDD/ID, early therapeutic...
Journal Article
Inherited Disorders of Lysine Metabolism: A Review
The Journal of Nutrition, Volume 150, Issue Supplement_1, October 2020, Pages 2556S–2560S, https://doi.org/10.1093/jn/nxaa112
Published: 01 October 2020
... neurological impairment. Lysine dietary restriction is a key therapy for GA1, whereas its benefits in antiquitin deficiency appear less clear. inborn errors of metabolism lysine glutaric aciduria type 1 pyridoxine-dependent epilepsy antiquitin deficiency Lysine is an essential amino acid, and inherited...
Journal Article
Emerging Concepts in Nutrient Needs
The Journal of Nutrition, Volume 150, Issue Supplement_1, October 2020, Pages 2593S–2601S, https://doi.org/10.1093/jn/nxaa117
Published: 01 October 2020
... in toxicity for a food component at levels usually tolerated by healthy people, as seen in inborn errors of metabolism. Here we summarize examples from a growing body of literature of disease-altering nutrient requirements, supporting the need to give more consideration to special nutrient requirements...
Journal Article
Isolated Orotic Aciduria in an 11-Year-Old Boy Get access
Clinical Chemistry, Volume 66, Issue 2, February 2020, Pages 396–397, https://doi.org/10.1093/clinchem/hvz012
Published: 10 February 2020
... ( https://dbpia.nl.go.kr/journals/pages/open_access/funder_policies/chorus/standard_publication_model ) Inborn Errors of Metabolism Orotic Aciduria Urea Cycle Disorders An 11-year-old boy presented to the genetics clinic with a history of developmental delays, poor growth, osteopenia...
Journal Article
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes
in
Brain
Brain, Volume 139, Issue 11, November 2016, Pages 2844–2854, https://doi.org/10.1093/brain/aww221
Published: 06 September 2016
... earlier and more efficient diagnoses in these patients. We designed a gene panel targeting 614 genes causing inborn errors of metabolism and tested its diagnostic efficacy in a paediatric cohort of 30 undiagnosed patients presenting with variable neurometabolic phenotypes. Genetic defects that could...
Journal Article
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism
in
Brain
Brain, Volume 139, Issue 2, February 2016, Pages 317–337, https://doi.org/10.1093/brain/awv371
Published: 26 December 2015
... of inborn errors of metabolism. 5 8 2015 19 10 2015 2 11 2015 © The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: [email protected] 2015 Mutations in autophagy...
Journal Article
Myocardial energy shortage and unmet anaplerotic needs in the fasted long-chain acyl-CoA dehydrogenase knockout mouse Get access
Cardiovascular Research, Volume 100, Issue 3, 1 December 2013, Pages 441–449, https://doi.org/10.1093/cvr/cvt212
Published: 16 September 2013
... availability, the sustained myocardial glucose uptake and PDH activity in LCAD KO mice are ineffective to maintain metabolic homeostasis during fasting, which is reflected by an impaired myocardial energy status in fasted LCAD KO mice. Carbon-13 magnetic resonance spectroscopy Mouse model Inborn errors...
Journal Article
Gene Therapy for Inherited Metabolic Disorders in Companion Animals
in
ILAR Journal
ILAR Journal, Volume 50, Issue 2, 2009, Pages 122–127, https://doi.org/10.1093/ilar.50.2.122
Published: 01 January 2009
... in
Companion Animals
Scientists fi rst described inborn errors of metabolism, also
termed inherited disorders of metabolism, early in the 20th ir Archibald Garrod fi rst described the concept of inborn
century and since then have determined the biochemical and errors of metabolism in the early 20th century...
Journal Article
Recurrent Nephrolithiasis in a 9-Year-Old Child Get access
Laboratory Medicine, Volume 37, Issue 10, October 2006, Pages 613–616, https://doi.org/10.1309/FJWXLGEXWG820WLB
Published: 01 October 2006
...Monte S. Willis 27 03 2006 22 5 2006 23 5 2006 Copyright© by the American Society for Clinical Pathology (ASCP) 2006 cystinuria cystine nephrolithiasis kidney stones crystals inborn errors of metabolism rBAT b0+AT Case Studies...
Journal Article
The adult form of Niemann–Pick disease type C Get access
in
Brain
Brain, Volume 130, Issue 1, January 2007, Pages 120–133, https://doi.org/10.1093/brain/awl260
Published: 26 September 2006
... at the visceral or cognitive/psychiatric stages of the disease, before the occurrence of widespread deep brain neurological lesions. adult inborn errors of metabolism lysosome Niemann–Pick C Abbreviations NPC Niemann–Pick disease type C VSO vertical supranuclear ophthalmoplegia NPC shows an extreme...
Journal Article
Brain Amino Acid Requirements and Toxicity: The Example of Leucine Get access
The Journal of Nutrition, Volume 135, Issue 6, June 2005, Pages 1531S–1538S, https://doi.org/10.1093/jn/135.6.1531S
Published: 01 June 2005
... – 4 ). A great deal of research now clearly implicates excitotoxicity as a component in mediating brain injury in diverse disorders, including epilepsy; brain hypoxia and trauma; inborn errors of metabolism; and various neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease...
Journal Article
Successful extracorporeal treatment of a male with hyperammonaemic coma Get access
Nephrology Dialysis Transplantation, Volume 20, Issue 2, February 2005, Pages 453–455, https://doi.org/10.1093/ndt/gfh495
Published: 01 February 2005
... citrullinaemia haemodiafiltration inborn errors of metabolism intensive care nutrition peritoneal dialysis A male newborn (37 weeks of gestation, birth weight 2860 g, length 50 cm) was admitted to hospital due to symptoms of vomiting, temperature instability, arterial hypertension and hyperexcitation...
Journal Article
Mass Spectrometry Methods for Metabolic and Health Assessment Get access
The Journal of Nutrition, Volume 131, Issue 5, May 2001, Pages 1615S–1620S, https://doi.org/10.1093/jn/131.5.1615S
Published: 01 May 2001
... be addressed. E-mail: [email protected] mass spectrometry tandem mass spectrometry inborn errors of metabolism vitamin deficiencies LITERATURE CITED Bonafe et al 2000 Bonafe , L. , Troxler , H. , Kuster , T. , Heizmann , C. W. , Chamoles , N. A. , Burlina , A. B. & Blau...
Journal Article
A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism Get access
Journal of Public Health, Volume 20, Issue 3, September 1998, Pages 331–343, https://doi.org/10.1093/oxfordjournals.pubmed.a024777
Published: 01 September 1998
...
Printed in Great Britain
A systematic review of evidence for the
appropriateness of neonatal screening
programmes for inborn errors of metabolism
Margaret J. Thomason, Joanne Lord, Murray D. Bain, Ronald A. Chalmers,
Peter Littlejohns, G. Michael Addison, A. Hervey Wilcox and
Carol A. Seymour...
Journal Article
Persistent neonatal hypoglycemia: Diagnosis and management Get access
Paediatrics & Child Health, Volume 3, Issue 1, 1/2 1998, Pages 16–19, https://doi.org/10.1093/pch/3.1.16
Published: 01 January 1998
...Sandra L Marles; Oscar G Casiro Endocrine disorders Fatty acid oxidation defects Inborn errors of metabolism Hepatic enzyme deficiencies Lack of substrate Neonatal hypoglycemia Before birth, the fetus receives glucose through the maternoplacental circulation at a daily amount of 7 g/kg ( 1...
Journal Article
Extraction of glyceric and glycolic acids from urine with tetrahydrofuran: utility in detection of primary hyperoxaluria Get access
Clinical Chemistry, Volume 43, Issue 8, 1 August 1997, Pages 1315–1320, https://doi.org/10.1093/clinchem/43.8.1315
Published: 01 August 1997
... disease were correctly identified. Thus, THF extraction is a convenient adjunct to routine organic acid analysis and facilitates the detection of PH. indexing terms: inborn errors of metabolism oxalates renal calculi laboratory diagnosis gas chromatography Oxalate excreted in urine arises from...
Journal Article
Pitfalls in measuring plasma cholesterol in the Smith–Lemli–Opitz syndrome Get access
Clinical Chemistry, Volume 43, Issue 1, 1 January 1997, Pages 129–133, https://doi.org/10.1093/clinchem/43.1.129
Published: 01 January 1997
... form of the disease had a plasma cholesterol concentration of 20 μmol/L—to our knowledge, the lowest value ever recorded in a human being. indexing terms: cholesterol oxidase inborn errors of metabolism gas chromatography dehydrocholesterol enzymatic assays analytical error In 1964, Smith et al...
