Literature DB >> 2372220

Cutaneous manifestations of methylmalonic acidemia.

R J Koopman1, R Happle.   

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Year:  1990        PMID: 2372220     DOI: 10.1007/bf00371650

Source DB:  PubMed          Journal:  Arch Dermatol Res        ISSN: 0340-3696            Impact factor:   3.017


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  7 in total

1.  Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency.

Authors:  M L Williams; S Packman; M J Cowan
Journal:  J Am Acad Dermatol       Date:  1983-07       Impact factor: 11.527

2.  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

3.  Amino acid deficiency and the skin rash associated with glucagonoma.

Authors:  J A Norton; C R Kahn; R Schiebinger; C Gorschboth; M F Brennan
Journal:  Ann Intern Med       Date:  1979-08       Impact factor: 25.391

4.  Massachusetts Metabolic Disorders Screening Program. II. Methylmalonic aciduria.

Authors:  J T Coulombe; V E Shih; H L Levy
Journal:  Pediatrics       Date:  1981-01       Impact factor: 7.124

Review 5.  Recent advances in the inherited methylmalonic acidemias.

Authors:  M J Mahoney; D Bick
Journal:  Acta Paediatr Scand       Date:  1987-09

6.  The natural history of the inherited methylmalonic acidemias.

Authors:  S M Matsui; M J Mahoney; L E Rosenberg
Journal:  N Engl J Med       Date:  1983-04-14       Impact factor: 91.245

7.  Neonatal citrullinemia associated with cutaneous manifestations and arginine deficiency.

Authors:  O M Goldblum; S W Brusilow; Y A Maldonado; E R Farmer
Journal:  J Am Acad Dermatol       Date:  1986-02       Impact factor: 11.527

  7 in total
  4 in total

1.  Acrodermatitis acidaemia secondary to 'overtreatment' and protein deficiency.

Authors:  G F Hoffmann; R Happle; S Kölker
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

2.  Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.

Authors:  M Sol Collado; Allison J Armstrong; Matthew Olson; Stephen A Hoang; Nathan Day; Marshall Summar; Kimberly A Chapman; John Reardon; Robert A Figler; Brian R Wamhoff
Journal:  Mol Genet Metab       Date:  2020-05-11       Impact factor: 4.797

3.  Liposomal amphotericin-B (AmBisome) for treatment of cutaneous widespread candidosis in an infant with methylmalonic acidaemia.

Authors:  S Stöckler; H Lackner; G Ginter; W Schwinger; B Plecko; W Müller
Journal:  Eur J Pediatr       Date:  1993-12       Impact factor: 3.183

Review 4.  Single amino acid supplementation in aminoacidopathies: a systematic review.

Authors:  Danique van Vliet; Terry G J Derks; Margreet van Rijn; Martijn J de Groot; Anita MacDonald; M Rebecca Heiner-Fokkema; Francjan J van Spronsen
Journal:  Orphanet J Rare Dis       Date:  2014-01-13       Impact factor: 4.123

  4 in total

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