Literature DB >> 1328761

The use of chorionic villi in prenatal diagnosis of mitochondriopathies.

W Ruitenbeek1, R C Sengers, J M Trijbels, A J Janssen, J A Bakkeren.   

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Year:  1992        PMID： 1328761     DOI： 10.1007/bf02435962

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


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  7 in total

1.  First trimester diagnosis of inherited metabolic disease: experience in the UK.

Authors:  G T Besley; E P Young; A H Fensom; A Cooper
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

2.  A microspectrophotometric method for the determination of cytochrome oxidase.

Authors:  S J COOPERSTEIN; A LAZAROW
Journal:  J Biol Chem       Date:  1951-04       Impact factor: 5.157

3.  Heterogeneous tissue expression of enzyme defects in mitochondrial myopathies.

Authors:  W Sperl; W Ruitenbeek; J M Trijbels; G C Korenke; R C Sengers
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  Prenatal diagnosis of cytochrome c oxidase deficiency by biopsy of chorionic villi.

Authors:  W Ruitenbeek; R Sengers; M Albani; F Trijbels; A Janssen; O van Diggelen; J Bakkeren
Journal:  N Engl J Med       Date:  1988-10-20       Impact factor: 91.245

Review 5.  Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature.

Authors:  P M van Erven; J P Cillessen; E M Eekhoff; F J Gabreëls; W H Doesburg; W A Lemmens; J L Slooff; W O Renier; W Ruitenbeek
Journal:  Clin Neurol Neurosurg       Date:  1987       Impact factor: 1.876

Review 6.  Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.

Authors:  W Sperl; W Ruitenbeek; C M Kerkhof; R C Sengers; J M Trijbels; J P Guggenbichler; A J Janssen; J A Bakkeren
Journal:  Eur J Pediatr       Date:  1990-04       Impact factor: 3.183

7.  A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

Authors:  J C Fischer; W Ruitenbeek; F J Gabreëls; A J Janssen; W O Renier; R C Sengers; A M Stadhouders; H J ter Laak; J M Trijbels; J H Veerkamp
Journal:  Eur J Pediatr       Date:  1986-02       Impact factor: 3.183
  7 in total
  3 in total

Review 1.  Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism.

Authors:  W Ruitenbeek; U Wendel; B C Hamel; J M Trijbels
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 2.  Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies.

Authors:  J M Trijbels; H R Scholte; W Ruitenbeek; R C Sengers; A J Janssen; H F Busch
Journal:  Eur J Pediatr       Date:  1993-03       Impact factor: 3.183

Review 3.  Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi.

Authors:  L Niers; L van den Heuvel; F Trijbels; R Sengers; J Smeitink
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982
  3 in total

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