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3 in total

Review 1. Enzyme studies in biotin-responsive disorders.

Authors: K Bartlett; H K Ghneim; H J Stirk; H Wastell
Journal: J Inherit Metab Dis Date: 1985 Impact factor: 4.982

2. Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.

Authors: W G Sherwood; M Saunders; B H Robinson; T Brewster; R A Gravel
Journal: J Pediatr Date: 1982-10 Impact factor: 4.406

3. Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.

Authors: B J Burri; L Sweetman; W L Nyhan
Journal: Am J Hum Genet Date: 1985-03 Impact factor: 11.025

3 in total

4 in total

Review 1. Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review.

Authors: Sahan P Semasinghe Bandaralage; Soheil Farnaghi; Joel M Dulhunty; Alka Kothari
Journal: Pediatr Radiol Date: 2016-01-11

2. Holocarboxylase synthetase deficiency: report of a case with onset in late infancy.

Authors: E Touma; T Suormala; E R Baumgartner; B Gerbaka; H Ogier de Baulny; J Loiselet
Journal: J Inherit Metab Dis Date: 1999-04 Impact factor: 4.982

3. Holocarboxylase synthetase deficiency: early diagnosis and management of a new case.

Authors: A Fuchshuber; T Suormala; B Roth; M Duran; D Michalk; E R Baumgartner
Journal: Eur J Pediatr Date: 1993-05 Impact factor: 3.183

4. Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation.

Authors: T P Slavin; S J Zaidi; C Neal; B Nishikawa; L H Seaver
Journal: JIMD Rep Date: 2013-09-13

4 in total