These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

121 related items for PubMed ID: 1150251

  • 1. Heterozygote tests and genetic counseling in maple syrup urine disease: an application of Baye's theorem.
    Langenbeck U, Grimm T, Rüdiger HW, Passarge E.
    Humangenetik; 1975; 27(4):315-22. PubMed ID: 1150251
    [Abstract] [Full Text] [Related]

  • 2. Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts.
    Wendel U, Wöhler W, Goedde HW, Langenbeck U, Passarge E, Rüdiger HW.
    Clin Chim Acta; 1973 May 30; 45(4):433-40. PubMed ID: 4730214
    [No Abstract] [Full Text] [Related]

  • 3. Family with intermittent maple syrup urine disease.
    Valman HB, Patrick AD, Seakins JW, Platt JW, Gompertz D.
    Arch Dis Child; 1973 Mar 30; 48(3):225-8. PubMed ID: 4693464
    [Abstract] [Full Text] [Related]

  • 4. DETECTION OF THE HETEROZYGOTE IN MAPLE SYRUP URINE DISEASE.
    DANCIS J, HUTZLER J, LEVITZ M.
    J Pediatr; 1965 Mar 30; 66():595-603. PubMed ID: 14264316
    [No Abstract] [Full Text] [Related]

  • 5. Detection of heterozygotes in maple syrup urin disease: role of lymphocyte count.
    Goedde HW, Langenbeck U, Brackertz D.
    Humangenetik; 1968 Mar 30; 6(2):189-90. PubMed ID: 5704438
    [No Abstract] [Full Text] [Related]

  • 6. Evaluation of a heterozygote test for maple syrup urine disease in leucocytes and cultured fibroblasts.
    Langenbeck U, Rüdiger HW, Schulze-Schencking M, Keller W, Brackertz D, Goedde HW.
    Humangenetik; 1971 Mar 30; 11(4):304-15. PubMed ID: 5550595
    [No Abstract] [Full Text] [Related]

  • 7. Maple syrup urine disease in a Bedouin tribe: pre- and postnatal diagnosis.
    Potashnik R, Carmi R, Sofer S, Bashan N, Abeliovich D.
    Isr J Med Sci; 1987 Aug 30; 23(8):886-9. PubMed ID: 3679791
    [Abstract] [Full Text] [Related]

  • 8. Maple syrup urine disease: two different forms within a single family.
    Frézal J, Amédée-Manesme O, Mitchell G, Heuertz S, Rey F, Rey J, Saudubray JM.
    Hum Genet; 1985 Aug 30; 71(1):89-91. PubMed ID: 4029957
    [Abstract] [Full Text] [Related]

  • 9. Letter: Historical observation in maple syrup urine disease.
    Shih VE, Mandell R, Scholl ML.
    J Pediatr; 1974 Dec 30; 85(6):868-9. PubMed ID: 4419958
    [No Abstract] [Full Text] [Related]

  • 10. Heterozygote detection for maple syrup urine disease in cattle.
    Healy PJ, Dennis JA.
    Aust Vet J; 1995 Sep 30; 72(9):346-8. PubMed ID: 8585849
    [Abstract] [Full Text] [Related]

  • 11. How to detect maple-syrup urine disease in newborn infants.
    Fogelson MH.
    Clin Pediatr (Phila); 1970 Sep 30; 9(9):538. PubMed ID: 5465716
    [No Abstract] [Full Text] [Related]

  • 12. Carrier detection and rapid newborn diagnostic test for the common Y393N maple syrup urine disease allele by PCR-RFLP: culturally permissible testing in the Mennonite community.
    Love-Gregory LD, Dyer JA, Grasela J, Hillman RE, Phillips CL.
    J Inherit Metab Dis; 2001 Jun 30; 24(3):393-403. PubMed ID: 11486905
    [Abstract] [Full Text] [Related]

  • 13. A rapid method for assay of branched-chain keto acid decarboxylation in cultured cells and its application to prenatal diagnosis of maple syrup urine disease.
    Fensom AH, Benson PF, Baker JE.
    Clin Chim Acta; 1978 Jul 01; 87(1):169-74. PubMed ID: 668138
    [Abstract] [Full Text] [Related]

  • 14. Complementation analysis of maple syrup urine disease in heterokaryons derived from cultured human fibroblasts.
    Lyons LB, Cox RP, Dancis J.
    Nature; 1973 Jun 29; 243(5409):533-5. PubMed ID: 4355237
    [No Abstract] [Full Text] [Related]

  • 15. Enzyme activity in classical and variant forms of maple syrup urine disease.
    Dancis J, Hutzler J, Snyderman SE, Cox RP.
    J Pediatr; 1972 Aug 29; 81(2):312-20. PubMed ID: 5042489
    [No Abstract] [Full Text] [Related]

  • 16. Definition of the mutation responsible for maple syrup urine disease in Poll Shorthorns and genotyping Poll Shorthorns and Poll Herefords for maple syrup urine disease alleles.
    Dennis JA, Healy PJ.
    Res Vet Sci; 1999 Aug 29; 67(1):1-6. PubMed ID: 10425233
    [Abstract] [Full Text] [Related]

  • 17. Assessment of whole body L-leucine oxidation by noninvasive L-[1-13C]leucine breath tests: a reappraisal in patients with maple syrup urine disease, obligate heterozygotes, and healthy subjects.
    Schadewaldt P, Bodner A, Brösicke H, Hammen HW, Wendel U.
    Pediatr Res; 1998 May 29; 43(5):592-600. PubMed ID: 9585004
    [Abstract] [Full Text] [Related]

  • 18. [Maple syrup urine disease. Genetic heterogeneity, heterozygote diagnosis and new therapeutic approach (author's transl)].
    Velázquez A, Montiel F, Sahw KN, Carnevale A, del Castillo V.
    Rev Invest Clin; 1981 May 29; 33(3):273-9. PubMed ID: 7330498
    [No Abstract] [Full Text] [Related]

  • 19. [HETEROZYGOTE TEST FOR MAPLE SYRUP URINE DISEASE. DETERMINATION OF THE ENZYMATIC ACTIVITY OF ALPHA-KETOISOCAPROIC ACID OXIDASE IN LEUKOCYTES].
    GOEDDE HW, RICHTER E, STAHLMANN C, SIXEL B.
    Klin Wochenschr; 1963 Oct 01; 41():953-4. PubMed ID: 14092946
    [No Abstract] [Full Text] [Related]

  • 20. Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.
    Li X, Ding Y, Liu Y, Ma Y, Song J, Wang Q, Li M, Qin Y, Yang Y.
    Eur J Med Genet; 2015 Nov 01; 58(11):617-23. PubMed ID: 26453840
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 7.