Features of carnitine palmitoyltransferase type I deficiency-Reference-Cited by-同舟云学术

Features of carnitine palmitoyltransferase type I deficiency

Published:2001-02 Issue:1 Volume:24 Page:35-42
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Olpin S. E.¹,Allen J.¹,Bonham J. R.¹,Clark S.¹,Clayton P. T.²,Calvin J.³,Downing M.¹,Ives K.⁴,Jones S.⁴,Manning N. J.¹,Pollitt R. J.¹,Standing S. J.⁵,Tanner M. S.⁶

Affiliation:

1. Neonatal Screening and Chemical Pathology; UK

2. ; Biochemistry Endocrinology and Metabolism Unit; Institute of Child Health; London

3. ; Chemical Pathology; Addenbrooke's Hospital Cambridge; UK

4. ; Department of Paediatrics; John Radcliffe Hospital; Oxford UK

5. Clinical Biochemistry; UK

6. ; Division of Paediatrics, Sheffield Children's Hospital; Sheffield

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005694320063/fullpdf

Reference16 articles.

1. Rate-dependent distal renal tubular acidosis in carnitine palmitoyltransferase type I deficiency;Bergman;Pediatr Res,1994

2. Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency;Bougnéres;J Pediatr,1981

3. Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPTIA and CPTIB);Britton;Genomics,1997

4. Hepatic and muscle presentations of carnitine palmitoyltransferase deficiency: two distinct entities;Demaugre;Pediatr Res,1988

5. Lethal neonatal presentation of CPT I deficiency. Abstract of VIII International Congress of Inborn Errors of Metabolism;Donadio;J Inherit Metab Dis,2000

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