Literature DB >> 4693464

Family with intermittent maple syrup urine disease.

H B Valman, A D Patrick, J W Seakins, J W Platt, D Gompertz.   

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Year:  1973        PMID: 4693464      PMCID: PMC1648079          DOI: 10.1136/adc.48.3.225

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


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  17 in total

1.  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

2.  Biotin-responsive propionicacidaemia.

Authors:  N D Barnes; D Hull; L Balgobin; D Gompertz
Journal:  Lancet       Date:  1970-08-01       Impact factor: 79.321

3.  Leigh's subacute necrotizing encephalopathy: clinical and biochemical study, with special reference to therapy with lipoate.

Authors:  B E Clayton; R H Dobbs; A D Patrick
Journal:  Arch Dis Child       Date:  1967-10       Impact factor: 3.791

4.  Branched chain alpha-keto acid metabolism. II. Evidence for the common identity of alpha-ketoisocaproic acid and alpha-keto-beta-methyl-valeric acid dehydrogenases.

Authors:  J A Bowden; J L Connelly
Journal:  J Biol Chem       Date:  1968-06-25       Impact factor: 5.157

5.  RNA and protein in nucleolar structures of dragonfly oocytes.

Authors:  L Halkka; O Halkka
Journal:  Science       Date:  1968-11-15       Impact factor: 47.728

6.  A gas chromatographic procedure for detection of pathological organic aciduria.

Authors:  K B Hammond; S I Goodman
Journal:  Clin Chem       Date:  1970-03       Impact factor: 8.327

7.  Volatile fatty acids in normal human physiological fluids.

Authors:  T L Perry; S Hansen; S Diamond; B Bullis; C Mok; S B Melançon
Journal:  Clin Chim Acta       Date:  1970-09       Impact factor: 3.786

8.  Isovaleric acidemia: a new genetic defect of leucine metabolism.

Authors:  K Tanaka; M A Budd; M L Efron; K J Isselbacher
Journal:  Proc Natl Acad Sci U S A       Date:  1966-07       Impact factor: 11.205

9.  Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis.

Authors:  V G Oberholzer; B Levin; E A Burgess; W F Young
Journal:  Arch Dis Child       Date:  1967-10       Impact factor: 3.791

10.  Intermittent branched-chain ketonuria. Variant of maple-syrup-urine disease.

Authors:  J Dancis; J Hutzler; T Rokkones
Journal:  N Engl J Med       Date:  1967-01-12       Impact factor: 91.245

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  3 in total

1.  Maple syrup urine disease variant: report on an infant.

Authors:  P Koepp; C Rybak; H W Rüdiger; U Wendel
Journal:  Z Kinderheilkd       Date:  1974-02-11

2.  Mild variant of maple syrup urine disease.

Authors:  S Kodama; A Seki; M Hanabusa; Y Morisita; T Sakurai
Journal:  Eur J Pediatr       Date:  1976-12-09       Impact factor: 3.183

3.  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

  3 in total

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