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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

113 related articles for article (PubMed ID: 11446412)

  • 1. 3-Hydroxyisobutyric aciduria: phenotypic heterogeneity within a single family.
    Shield JP; Gough R; Allen J; Newbury-Ecob R
    Clin Dysmorphol; 2001 Jul; 10(3):189-91. PubMed ID: 11446412
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.
    Loupatty FJ; van der Steen A; Ijlst L; Ruiter JP; Ofman R; Baumgartner MR; Ballhausen D; Yamaguchi S; Duran M; Wanders RJ
    Mol Genet Metab; 2006 Mar; 87(3):243-8. PubMed ID: 16466957
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria.
    Chitayat D; Meagher-Villemure K; Mamer OA; O'Gorman A; Hoar DI; Silver K; Scriver CR
    J Pediatr; 1992 Jul; 121(1):86-9. PubMed ID: 1625099
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A severely brain-damaged case of 3-hydroxyisobutyric aciduria.
    Sasaki M; Iwata H; Sugai K; Fukumizu M; Kimura M; Yamaguchi S
    Brain Dev; 2001 Jul; 23(4):243-5. PubMed ID: 11377004
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings--a new recessive syndrome?
    Strømme P; Stokke O; Jellum E; Skjeldal OH; Baumgartner R
    Clin Genet; 1995 Jul; 48(1):1-5. PubMed ID: 7586637
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
    Capo-Chichi JM; Boissel S; Brustein E; Pickles S; Fallet-Bianco C; Nassif C; Patry L; Dobrzeniecka S; Liao M; Labuda D; Samuels ME; Hamdan FF; Vande Velde C; Rouleau GA; Drapeau P; Michaud JL
    J Med Genet; 2015 May; 52(5):303-11. PubMed ID: 25650066
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.
    Misra VK; Struys EA; O'brien W; Salomons GS; Glover T; Jakobs C; Innis JW
    Mol Genet Metab; 2005; 86(1-2):200-5. PubMed ID: 16081310
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism.
    Ko FJ; Nyhan WL; Wolff J; Barshop B; Sweetman L
    Pediatr Res; 1991 Oct; 30(4):322-6. PubMed ID: 1956714
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [3-Hydroxyisobutyric aciduria (3-hydroxyisobutyric acid dehydrogenase deficiency)].
    Yoshida I
    Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):317-9. PubMed ID: 9590056
    [No Abstract]   [Full Text] [Related]  

  • 10. 4-Hydroxybutyric aciduria: a new inborn error of metabolism. I. Clinical review.
    Rating D; Hanefeld F; Siemes H; Kneer J; Jakobs C; Hermier M; Divry P
    J Inherit Metab Dis; 1984; 7 Suppl 1():90-2. PubMed ID: 6434851
    [No Abstract]   [Full Text] [Related]  

  • 11. Fumaric aciduria: an overview and the first Brazilian case report.
    Allegri G; Fernandes MJ; Scalco FB; Correia P; Simoni RE; Llerena JC; de Oliveira ML
    J Inherit Metab Dis; 2010 Aug; 33(4):411-9. PubMed ID: 20549362
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.
    Sasarman F; Ferdinandusse S; Sinasac DS; Fung E; Sparkes R; Reeves M; Rombough C; Sass JO; Voit R; Ruiter JPN; Koster J; Waterham HR; Pasquini E; Donati MA; Marquardt T; Wanders RJA; Al-Hertani W
    J Inherit Metab Dis; 2022 May; 45(3):445-455. PubMed ID: 35174513
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance.
    Gibson KM; Jansen I; Sweetman L; Nyhan WL; Rating D; Jakobs C; Divry P
    J Inherit Metab Dis; 1984; 7 Suppl 1():95-6. PubMed ID: 6434853
    [No Abstract]   [Full Text] [Related]  

  • 14. 4-Hydroxybutyric aciduria: a new inborn error of metabolism. II. Biochemical findings.
    Jakobs C; Kneer J; Rating D; Hanefeld F; Divry P; Hermier M
    J Inherit Metab Dis; 1984; 7 Suppl 1():92-4. PubMed ID: 6434852
    [No Abstract]   [Full Text] [Related]  

  • 15. 3-hydroxyisobutyric aciduria with a mild clinical course.
    Boulat O; Benador N; Girardin E; Bachmann C
    J Inherit Metab Dis; 1995; 18(2):204-6. PubMed ID: 7564247
    [No Abstract]   [Full Text] [Related]  

  • 16. Stereodifferentiation of 3-hydroxyisobutyric- and 3-aminoisobutyric acid in human urine by enantioselective multidimensional capillary gas chromatography-mass spectrometry.
    Podebrad F; Heil M; Beck T; Mosandl A; Sewell AC; Böhles H
    Clin Chim Acta; 2000 Feb; 292(1-2):93-105. PubMed ID: 10686279
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria.
    Larnaout A; Hentati F; Belal S; Ben Hamida C; Kaabachi N; Ben Hamida M
    Acta Neuropathol; 1994; 88(4):367-70. PubMed ID: 7839830
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Basal ganglia lesions in a patient with 3-hydroxyisobutyric aciduria.
    Sasaki M; Yamada N; Fukumizu M; Sugai K
    Brain Dev; 2006 Oct; 28(9):600-3. PubMed ID: 16713161
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 3-Hydroxyisobutyric aciduria in two brothers.
    Sasaki M; Kimura M; Sugai K; Hashimoto T; Yamaguchi S
    Pediatr Neurol; 1998 Mar; 18(3):253-5. PubMed ID: 9568924
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4').
    Chitayat D; Chemke J; Gibson KM; Mamer OA; Kronick JB; McGill JJ; Rosenblatt B; Sweetman L; Scriver CR
    J Inherit Metab Dis; 1992; 15(2):204-12. PubMed ID: 1382150
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.