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6 in total

1. Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts.

Authors: R B Schutgens; B Middleton; J F vd Blij; J W Oorthuys; H A Veder; T Vulsma; W H Tegelaers
Journal: Eur J Pediatr Date: 1982-09 Impact factor: 3.183

Review 2. Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.

Authors: O Søvik
Journal: J Inherit Metab Dis Date: 1993 Impact factor: 4.982

Review 3. Primary (genetic) cardiomyopathies in infancy. A survey of possible disorders and guidelines for diagnosis.

Authors: A Kohlschütter; G Hausdorf
Journal: Eur J Pediatr Date: 1986-12 Impact factor: 3.183

4. Cardiomyopathy in propionic acidaemia.

Authors: A F Massoud; J V Leonard
Journal: Eur J Pediatr Date: 1993-05 Impact factor: 3.183

5. 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.

Authors: Sarah C Grünert; Jörn Oliver Sass
Journal: Orphanet J Rare Dis Date: 2020-04-28 Impact factor: 4.123

Review 6. Cardiac Complications of Propionic and Other Inherited Organic Acidemias.

Authors: Kyung Chan Park; Steve Krywawych; Eva Richard; Lourdes R Desviat; Pawel Swietach
Journal: Front Cardiovasc Med Date: 2020-12-22

6 in total