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Inborn Errors of Metabolism
Known as:
Metabolism, Inborn Errors
, Errors Metabolism, Inborn
, Metabolism, Inborn Errors [Disease/Finding]
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A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid…
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National Institutes of Health
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Related topics
Related topics
50 relations
Narrower (30)
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria Type IV
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Amino Acid Metabolism, Inborn Errors
Biotin
Congenital Hypothyroidism
Congenital Systemic Disorder
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2005
Review
2005
Should We Disclose Harmful Medical Errors to Patients? If So, How?
T. Gallagher
,
Mar Lucas
2005
Corpus ID: 46659909
• Objective: To assess the strength of the evidence for disclosing errors to patients, focusing on patients’ and physicians…
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1988
1988
Total parenteral nutrition in the newborn: impact of the quality of infused energy on nitrogen metabolism.
M. Pineault
,
P. Chessex
,
Suzanne Bisaillon
,
G. Brisson
American Journal of Clinical Nutrition
1988
Corpus ID: 4432710
To separate the respective influence of the level and source of infused energy on nitrogen metabolism, 32 studies were performed…
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Highly Cited
1980
Highly Cited
1980
Inherited Disorders of Carbohydrate Metabolism
D. Burman
,
J. Holton
,
C. Pennock
Springer Netherlands
1980
Corpus ID: 43498334
1979
1979
The visual results following infantile glaucoma surgery.
A. Biglan
,
D. Hiles
Journal of pediatric ophthalmology and strabismus
1979
Corpus ID: 28862438
The visual function of 26 patients with a diagnosis of primary infantile glaucoma was studied. Quantitative visual acuities were…
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1978
1978
Clinical diagnosis of the inborn errors of metabolism in the neonatal period.
B. Burton
,
H. Nadler
Pediatrics
1978
Corpus ID: 38575137
The first step in the evaluation of any sick neonate, and clearly the most important one, is a thorough clinical assessment…
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1973
1973
Gas-chromatographic-mass-spectrometric determination of urinary acid profiles of normal young adults on a controlled diet.
T. Witten
,
S. Levine
,
J. O. King
,
S. Markey
Clinical Chemistry
1973
Corpus ID: 31166040
Urinary acid metabolic profiles of 21 healthy young adults who were maintained on a palatable standard diet for three days have…
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1969
1969
[The EMG-syndrome: exomphalos, macroglossia, gigantism and disturbed carbohydrate metabolism].
H. Wiedemann
Zeitschrift für Kinderheilkunde
1969
Corpus ID: 30009643
The practical significance of the recently discovered syndrome of exomphalos, macroglossia, macrosomia and facultatively a…
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Highly Cited
1968
Highly Cited
1968
Recent Aspects of Nitrogen Metabolism in Plants
E. Hewitt
,
C. V. Cutting
1968
Corpus ID: 83932499
Preparing the books to read every day is enjoyable for many people. However, there are still many people who also don't like…
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Highly Cited
1965
Highly Cited
1965
Effect of variations in protein intake on enzymes of amino acid metabolism.
A. Harper
Canadian Journal of Biochemistry
1965
Corpus ID: 41287936
Changes in the protein intake of animals result in changes in the activities of many enzymes of nitrogen metabolism. Effects of…
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Highly Cited
1945
Highly Cited
1945
Practical Aspects of Oxalate Metabolism
H. Jeghers
,
R. Murphy
1945
Corpus ID: 201880801
Oxalate Lithiasis Urinary lithiasis is a broad subject. There are a number of excellent general papers that are of considerable…
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