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10 in total

1. Aqueous humour, a possible material for postmortem methylmalonic acidaemia diagnosis.

Authors: M Coude; J P Bonnefont; C Charpentier; B Chadefaux; J M Saudubray; P Kamoun
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

2. Studies on cultured fibroblasts from patients with defects of biotin-dependent carboxylation.

Authors: K Bartlett; H Ng; G Dale; A Green; J V Leonard
Journal: J Inherit Metab Dis Date: 1981 Impact factor: 4.982

Review 3. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.

Authors: K M Gibson; J Breuer; W L Nyhan
Journal: Eur J Pediatr Date: 1988-12 Impact factor: 3.183

4. Screening for organic acidurias and amino acidopathies in newborns and children.

Authors: R A Chalmers; P Purkiss; R W Watts; A M Lawson
Journal: J Inherit Metab Dis Date: 1980 Impact factor: 4.982

5. Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts.

Authors: M Saunders; L Sweetman; B Robinson; K Roth; R Cohn; R A Gravel
Journal: J Clin Invest Date: 1979-12 Impact factor: 14.808

6. A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria.

Authors: W Lehnert; H Niederhoff; A Junker; H Saule; W Frasch
Journal: Eur J Pediatr Date: 1979-10 Impact factor: 3.183

7. Organic aciduria in neonatal multiple carboxylase deficiency.

Authors: L Sweetman; W L Nyhan; N A Sakati; A Ohlsson; M S Mange; R B Boychuk; R Kaye
Journal: J Inherit Metab Dis Date: 1982 Impact factor: 4.982

8. Organic acids in aqueous humour and plasma: post mortem study in infants and diagnosis of enzymopathies.

Authors: M M Coude; C Charpentier; J P Bonnefont; G Cheron; P Kamoun
Journal: J Inherit Metab Dis Date: 1991 Impact factor: 4.982

9. Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency.

Authors: M E Saunders; W G Sherwood; M Duthie; L Surh; R A Gravel
Journal: Am J Hum Genet Date: 1982-07 Impact factor: 11.025

10. Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach.

Authors: H A Haijes; J J M Jans; M van der Ham; P M van Hasselt; N M Verhoeven-Duif
Journal: Orphanet J Rare Dis Date: 2020-03-06 Impact factor: 4.123

10 in total