Literature DB >> 1598098

Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency.

Z C Falik-Borenstein1, S C Jordan, J M Saudubray, M Brivet, F Demaugre, J Edmond, S D Cederbaum.   

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Year:  1992        PMID： 1598098     DOI： 10.1056/NEJM199207023270105

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  14 in total

Review 1.  L-Carnitine.

Authors:  J H Walter
Journal:  Arch Dis Child       Date:  1996-06       Impact factor: 3.791

Review 2.  Newborn screening and renal disease: where we have been; where we are now; where we are going.

Authors:  J Lawrence Merritt; David Askenazi; Si Houn Hahn
Journal:  Pediatr Nephrol       Date:  2011-09-27       Impact factor: 3.714

3.  Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.

Authors:  J M Stoler; M A Sabry; C Hanley; C L Hoppel; V E Shih
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

4.  Features of carnitine palmitoyltransferase type I deficiency.

Authors:  S E Olpin; J Allen; J R Bonham; S Clark; P T Clayton; J Calvin; M Downing; K Ives; S Jones; N J Manning; R J Pollitt; S J Standing; M S Tanner
Journal:  J Inherit Metab Dis       Date:  2001-02       Impact factor: 4.982

Review 5.  Fatty acid metabolism by the osteoblast.

Authors:  Priyanka Kushwaha; Michael J Wolfgang; Ryan C Riddle
Journal:  Bone       Date:  2017-08-31       Impact factor: 4.398

6.  Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene.

Authors:  C H Britton; R A Schultz; B Zhang; V Esser; D W Foster; J D McGarry
Journal:  Proc Natl Acad Sci U S A       Date:  1995-03-14       Impact factor: 11.205

7.  Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency.

Authors:  Jong Sub Choi; Hyeoh Won Yoo; Kyung Jae Lee; Jung Min Ko; Jin Soo Moon; Jae Sung Ko
Journal:  Pediatr Gastroenterol Hepatol Nutr       Date:  2016-03-22

8.  Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.

Authors:  L IJlst; H Mandel; W Oostheim; J P Ruiter; A Gutman; R J Wanders
Journal:  J Clin Invest       Date:  1998-08-01       Impact factor: 14.808

9.  Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency.

Authors:  I Handig; E Dams; F Taroni; S Van Laere; T de Barsy; J Willems P
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132

10.  Renal mitochondrial cytopathies.

Authors:  Francesco Emma; Giovanni Montini; Leonardo Salviati; Carlo Dionisi-Vici
Journal:  Int J Nephrol       Date:  2011-07-27
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