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… (More)

Topic mentions per year

Topic mentions per year

1949-2018
05010015019492017

Papers overview

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Review
2016
Review
2016
In addition to oxidative phosphorylation (OXPHOS), mitochondria perform other functions such as heme biosynthesis and oxygen… (More)
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Highly Cited
2009
Highly Cited
2009
Early diagnosis of inborn errors of metabolism is commonly performed through biofluid metabolomics, which detects specific… (More)
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2005
2005
Breastfeeding has been recommended for the dietary treatment of infants with phenylketonuria, but studies documenting clinical… (More)
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Highly Cited
2003
Highly Cited
2003
BACKGROUND The recent development of electrospray tandem mass spectrometry makes it possible to screen newborns for many rare… (More)
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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… (More)
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1999
1999
BACKGROUND Certain inborn errors of metabolism become manifest during the neonatal period by acute accumulation of neurotoxic… (More)
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Highly Cited
1994
Highly Cited
1994
ABSTRACT: In a patient with extrapyramidal movement disorder and extremely low creatinine concentrations in serum and urine, in… (More)
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Highly Cited
1990
Highly Cited
1990
A method for analysis of acylcarnitines in blood at physiological concentrations has been developed. Preliminary results from… (More)
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Highly Cited
1976
Highly Cited
1976
Cultured fibroblasts derived from patients with homozygous familial hypercholesterolemia, which lack functional low density… (More)
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1969
1969
Inborn errors of metabolism (IEM) are a heterogeneous group of monogenic diseases that affect the metabolic pathways. The… (More)
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