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7 in total

Review 1. Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.

Authors: Go Tajima; Keiichi Hara; Miori Yuasa
Journal: J Hum Genet Date: 2018-12-04 Impact factor: 3.172

Review 2. Metabolic Myoglobinuria.

Authors: Emanuele Barca; Valentina Emmanuele; Salvatore Billi DiMauro
Journal: Curr Neurol Neurosci Rep Date: 2015-10 Impact factor: 5.081

3. Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood.

Authors: P Kaufmann; M el-Schahawi; S DiMauro
Journal: Mol Cell Biochem Date: 1997-09 Impact factor: 3.396

Review 4. Defects in activation and transport of fatty acids.

Authors: M Brivet; A Boutron; A Slama; C Costa; L Thuillier; F Demaugre; D Rabier; J M Saudubray; J P Bonnefont
Journal: J Inherit Metab Dis Date: 1999-06 Impact factor: 4.982

Review 5. Inborn errors of energy metabolism associated with myopathies.

Authors: Anibh M Das; Ulrike Steuerwald; Sabine Illsinger
Journal: J Biomed Biotechnol Date: 2010-05-26

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. 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

7 in total