Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis-Reference-Cited by-同舟云学术

Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis

Published:2017-03 Issue: Volume:10 Page:8-10
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Raval Donna B.,Cusmano-Ozog Kristina P.,Ayyub Omar,Jenevein Callie,Kofman Laura H.,Lanpher Brendan,Hauser Natalie^ORCID,Regier Debra S.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference9 articles.

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2. Diagnossis, treatment, and clinical outcome of patients with mitochondrial trifunctional protein/long-chain 3-Hydroxy acyl-CoA dehydrogenase deficiency;De Biase;JIMD Reports DOI,2016

3. Analysis of acylcarnitine profiles in umbilical cord blood and during the early neonatal period by electrospray ionization tandem mass spectrometry;Neto;Braz. J. Med. Biol. Res.,2012

4. AL Patterson, M Pourfarzam, MJ Henderson. (2000) The utility of cord blood analysis in the diagnosis of organic acidaemias. J. Inherit. Metab. Dis. 23 (Suppl 1): 84 (Abstract).

5. Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study;Walter;J. Inherit. Metab. Dis.,2009

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2. Collapsing glomerulopathy in a child with LCHAD deficiency: a rare association;CEN Case Reports;2019-02-12