Diagnosis of Mitochondrial Trifunctional Protein Deficiency in a Blood Spot from the Newborn Screening Card by Tandem Mass Spectrometry and DNA Analysis-Reference-Cited by-同舟云学术

Diagnosis of Mitochondrial Trifunctional Protein Deficiency in a Blood Spot from the Newborn Screening Card by Tandem Mass Spectrometry and DNA Analysis

Published:1999-07 Issue:1 Volume:46 Page:45-49
ISSN:0031-3998
Container-title:Pediatric Research
language:
Short-container-title:Pediatr Res

Author:

Matern Dietrich,Strauss Arnold W,Hillman Steven L,Mayatepek Ertan,Millington David S,Trefz Friedrich-Karl

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Reference28 articles.

1. Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect

2. Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence

3. Trifunctional enzyme deficiency: Adult presentation of a usually fatal ?-oxidation defect

4. SIDS and disorders of fatty acid oxidation: Where do we go from here?

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