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21 in total

1. LATE MANIFESTING VARIANT OF BRANCHED-CHAIN KETOACIDURIA (MAPLE SYRUP URINE DISEASE).

Authors: R KIIL; T ROKKONES
Journal: Acta Paediatr Date: 1964-07 Impact factor: 2.299

2. THE DIAGNOSIS OF MAPLE SYRUP URINE DISEASE (BRANCHED- CHAIN KETOACIDURIA) BY THE IN VITRO STUDY OF THE PERIPHERAL LEUKOCYTE.

Authors: J DANCIS; J HUTZLER; M LEVITZ
Journal: Pediatrics Date: 1963-08 Impact factor: 7.124

3. Thiamine-responsive maple-syrup-urine disease.

Authors: C R Scriver; S Mackenzie; C L Clow; E Delvin
Journal: Lancet Date: 1971-02-13 Impact factor: 79.321

4. Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts.

Authors: U Wendel; W Wöhler; H W Goedde; U Langenbeck; E Passarge; H W Rüdiger
Journal: Clin Chim Acta Date: 1973-05-30 Impact factor: 3.786

5. Family with intermittent maple syrup urine disease.

Authors: H B Valman; A D Patrick; J W Seakins; J W Platt; D Gompertz
Journal: Arch Dis Child Date: 1973-03 Impact factor: 3.791

6. Maple syrup urine disease variant. Report of a case.

Authors: T E Gretter; D Lonsdale; R D Mercer; C Robinson; R J Shamberger
Journal: Cleve Clin Q Date: 1972

7. Biochemical studies on a variant of branched chain ketoaciduria in a 19-year-old female.

Authors: M H Fischer; T Gerritsen
Journal: Pediatrics Date: 1971-11 Impact factor: 7.124

8. Clinical and biochemical-genetic aspects of intermittent branched-chain ketoaciduria. Report of two Scandinavian families.

Authors: H W Goedde; U Langenbeck; D Brackertz; W Keller; T Rokkones; S Halvorsen; R Kiil; B Merton
Journal: Acta Paediatr Scand Date: 1970-01

9. Late-onset branched-chain ketoaciduria: (maple syrup urine disease).

Authors: M D Morris; D A Fisher; R Fiser
Journal: J Lancet Date: 1966-03

10. The gas-chromatographic diagnosis of intermittent maple syrup urine disease (branch-chain ketoaciduria).

Authors: D Gompertz; G H Draffan
Journal: Clin Chim Acta Date: 1972-08 Impact factor: 3.786

2 in total

1. Maple syrup urine disease: treatment of the acutely ill newborn.

Authors: G Hammersen; L Wille; H Schmidt; P Lutz; H Bickel
Journal: Eur J Pediatr Date: 1978-10-12 Impact factor: 3.183

2. Multilayered genetic and omics dissection of mitochondrial activity in a mouse reference population.

Authors: Yibo Wu; Evan G Williams; Sébastien Dubuis; Adrienne Mottis; Virginija Jovaisaite; Sander M Houten; Carmen A Argmann; Pouya Faridi; Witold Wolski; Zoltán Kutalik; Nicola Zamboni; Johan Auwerx; Ruedi Aebersold
Journal: Cell Date: 2014-09-11 Impact factor: 41.582

2 in total