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Journal Abstract Search

134 related items for PubMed ID: 88555

  • 1. Biotin-responsive alopecia and developmental regression.
    Charles BM, Hosking G, Green A, Pollitt R, Bartlett K, Taitz LS.
    Lancet; 1979 Jul 21; 2(8134):118-20. PubMed ID: 88555
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  • 3. Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset.
    Lehnert W, Niederhoff H, Suormala T, Baumgartner ER.
    Eur J Pediatr; 1996 Jul 21; 155(7):568-72. PubMed ID: 8831079
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  • 4. Holocarboxylase synthetase deficiency: early diagnosis and management of a new case.
    Fuchshuber A, Suormala T, Roth B, Duran M, Michalk D, Baumgartner ER.
    Eur J Pediatr; 1993 May 21; 152(5):446-9. PubMed ID: 8319716
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  • 7. Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria.
    Weyler W, Sweetman L, Maggio DC, Nyhan WL.
    Clin Chim Acta; 1977 May 02; 76(3):321-8. PubMed ID: 858206
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  • 8. Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency.
    Elpeleg ON, Havkin S, Barash V, Jakobs C, Glick B, Shalev RS.
    J Pediatr; 1992 Sep 02; 121(3):407-10. PubMed ID: 1517917
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  • 9. Fatty-acid-responsive alopecia in multiple carboxylase deficiency.
    Munnich A, Saudubray JM, Coude FX, Charpentier C, Saurat JH, Frezal J.
    Lancet; 1980 May 17; 1(8177):1080-1. PubMed ID: 6103410
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  • 10. [Multiple biotin-dependent carboxylase deficiencies (author's transl)].
    Munnich A, Saudubray JM, Ogier H, Coude FX, Marsac C, Roccichioli F, Labarthe JC, Cazenave C, Laugier J, Charpentier C, Frézal J.
    Arch Fr Pediatr; 1981 Feb 17; 38(2):83-90. PubMed ID: 6112972
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  • 12. Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.
    Suormala T, Fowler B, Duran M, Burtscher A, Fuchshuber A, Tratzmüller R, Lenze MJ, Raab K, Baur B, Wick H, Baumgartner R.
    Pediatr Res; 1997 May 17; 41(5):666-73. PubMed ID: 9128289
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  • 13. Biotin-reversible neurodegenerative disease in infancy.
    Low LC, Stephenson JB, Bartlett K, Seakins JW, Shaikh SA.
    Aust Paediatr J; 1986 Feb 17; 22(1):65-8. PubMed ID: 3087340
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  • 17. Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis.
    Munnich A, Saudubray JM, Cotisson A, Coudĕ FX, Ogier H, Charpentier C, Marsac C, Carrĕ G, Bourgeay-Causse M, Frĕzal J.
    Eur J Pediatr; 1981 Oct 17; 137(2):203-6. PubMed ID: 7198043
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  • 18. Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.
    Wolf B, Hsia YE, Sweetman L, Feldman G, Boychuk RB, Bart RD, Crowell DH, Di Mauro RM, Nyhan WL.
    Pediatrics; 1981 Jul 17; 68(1):113-8. PubMed ID: 6787561
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