Literature DB >> 9266367

Muscle biochemistry in thiamin-responsive anaemia.

T G Barrett1, K Poulton, M Baines, C McCowen.   

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Year:  1997        PMID: 9266367     DOI: 10.1023/a:1005302717117

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


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  7 in total

1.  Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells.

Authors:  H R Scholte; H F Busch; I E Luyt-Houwen; M H Vaandrager-Verduin; H Przyrembel; W F Arts
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

2.  Thiamine-responsive megaloblastic anemia.

Authors:  F S Porter; L E Rogers; J B Sidbury
Journal:  J Pediatr       Date:  1969-04       Impact factor: 4.406

3.  Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia.

Authors:  G Rindi; C Patrini; U Laforenza; H Mandel; M Berant; M B Viana; V Poggi; A N Zarra
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

4.  Friedreich's ataxia: I. Normal pyruvate dehydrogenase complex activity in platelets.

Authors:  D A Stumpf; J K Parks
Journal:  Ann Neurol       Date:  1978-10       Impact factor: 10.422

Review 5.  Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies.

Authors:  X X Zheng; J M Shoffner; A S Voljavec; D C Wallace
Journal:  Biochim Biophys Acta       Date:  1990-08-09

6.  Thiamine responsive anaemia: a study of two further cases.

Authors:  C Haworth; D I Evans; J Mitra; S N Wickramasinghe
Journal:  Br J Haematol       Date:  1982-04       Impact factor: 6.998

7.  A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria.

Authors:  A Kohlschütter; A Behbehani; U Langenbeck; M Albani; P Heidemann; G Hoffmann; J Kleineke; W Lehnert; U Wendel
Journal:  Eur J Pediatr       Date:  1982-02       Impact factor: 3.183

  7 in total
  1 in total

1.  A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I.

Authors:  C Scharfe; M Hauschild; T Klopstock; A J Janssen; P H Heidemann; T Meitinger; M Jaksch
Journal:  J Med Genet       Date:  2000-09       Impact factor: 6.318

  1 in total

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