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Inborn Errors of Metabolism

Known as: Metabolism, Inborn Errors, Errors Metabolism, Inborn, Metabolism, Inborn Errors [Disease/Finding] 
A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid… 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2011
Review
2011
Aim From the most recent data the magnitude of visual impairment and its causes in 2010 have been estimated, globally and by WHO… 
Review
2008
Review
2008
Manuscript Number: MCO180613R1 Full Title: Micronutrient and amino acid losses in acute renal replacement therapy Article Type… 
Review
2004
Review
2004
0006 2979/02/6705 0611$27.00 ©2002 MAIK “Nauka/Interperiodica” The previous seven editions of this book are well known to the… 
Review
2004
Review
2004
  • L. Gladden
  • The Journal of physiology
  • 2004
  • Corpus ID: 19105949
For much of the 20th century, lactate was largely considered a dead‐end waste product of glycolysis due to hypoxia, the primary… 
Highly Cited
2003
Highly Cited
2003
BACKGROUND The recent development of electrospray tandem mass spectrometry makes it possible to screen newborns for many rare… 
Highly Cited
2003
Highly Cited
2003
OBJECTIVE The aims of this study were to determine the impact of expanded newborn screening using tandem mass spectrometry (MS/MS… 
Review
1998
Review
1998
An elevated level of total homocysteine (tHcy) in blood, denoted hyperhomocysteinemia, is emerging as a prevalent and strong risk… 
Highly Cited
1989
Highly Cited
1989
We estimated the sensitivity of a screening procedure (SP) for inborn errors of metabolism (IEM) in 566 referred, high-risk…