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 *

129 related articles for article (PubMed ID: 37987109)

  • 1. Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report.
    Lee JK; Oh A
    J Korean Med Sci; 2023 Nov; 38(45):e387. PubMed ID: 37987109
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
    Levtova A; Waters PJ; Buhas D; Lévesque S; Auray-Blais C; Clarke JTR; Laframboise R; Maranda B; Mitchell GA; Brunel-Guitton C; Braverman NE
    J Inherit Metab Dis; 2019 Jan; 42(1):107-116. PubMed ID: 30740739
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Combined Malonic and Methylmalonic Aciduria Due to
    Wang P; Shu J; Gu C; Yu X; Zheng J; Zhang C; Cai C
    Front Pediatr; 2021; 9():751895. PubMed ID: 34900860
    [No Abstract]   [Full Text] [Related]  

  • 4. [Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].
    Liu YP; Ma YY; Wu TF; Wang Q; Li XY; Ding Y; Song JQ; Huang Y; Yang YL
    Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):410-4. PubMed ID: 22931934
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria.
    Tucci S
    Orphanet J Rare Dis; 2020 Jan; 15(1):27. PubMed ID: 31969167
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.
    Alfares A; Nunez LD; Al-Thihli K; Mitchell J; Melançon S; Anastasio N; Ha KC; Majewski J; Rosenblatt DS; Braverman N
    J Med Genet; 2011 Sep; 48(9):602-5. PubMed ID: 21785126
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies.
    Gregg AR; Warman AW; Thorburn DR; O'Brien WE
    J Inherit Metab Dis; 1998 Jun; 21(4):382-90. PubMed ID: 9700595
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria.
    Gabriel MC; Rice SM; Sloan JL; Mossayebi MH; Venditti CP; Al-Kouatly HB
    Mol Genet Genomic Med; 2021 Apr; 9(4):e1621. PubMed ID: 33625768
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Malonic aciduria in Maltese dogs: normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts.
    O'Brien DP; Barshop BA; Faunt KK; Johnson GC; Gibson KM; Shelton GD
    J Inherit Metab Dis; 1999 Dec; 22(8):883-90. PubMed ID: 10604140
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
    Sloan JL; Johnston JJ; Manoli I; Chandler RJ; Krause C; Carrillo-Carrasco N; Chandrasekaran SD; Sysol JR; O'Brien K; Hauser NS; Sapp JC; Dorward HM; Huizing M; ; Barshop BA; Berry SA; James PM; Champaigne NL; de Lonlay P; Valayannopoulos V; Geschwind MD; Gavrilov DK; Nyhan WL; Biesecker LG; Venditti CP
    Nat Genet; 2011 Aug; 43(9):883-6. PubMed ID: 21841779
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and biochemical studies on Chinese patients with methylmalonic aciduria.
    Yang Y; Sun F; Song J; Hasegawa Y; Yamaguchi S; Zhang Y; Jiang Y; Qin J; Wu X
    J Child Neurol; 2006 Dec; 21(12):1020-4. PubMed ID: 17156691
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.
    Dionisi-Vici C; Deodato F; Röschinger W; Rhead W; Wilcken B
    J Inherit Metab Dis; 2006; 29(2-3):383-9. PubMed ID: 16763906
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Malonic aciduria: long-term follow-up of new patients detected by newborn screening.
    Baertling F; Mayatepek E; Thimm E; Schlune A; Kovacevic A; Distelmaier F; Salomons GS; Meissner T
    Eur J Pediatr; 2014 Dec; 173(12):1719-22. PubMed ID: 25233985
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.
    Brennerová K; Škopková M; Ostrožlíková M; Šaligová J; Staník J; Bzdúch V; Gašperíková D
    BMC Pediatr; 2021 Dec; 21(1):578. PubMed ID: 34915869
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Neonatal onset methylmalonic aciduria and homocystinuria:Biochemical and clinical improvement with betaine therapy].
    Urbón Artero A; Aldana Gómez J; Reig Del Moral C; Nieto Conde C; Merinero Cortés B
    An Esp Pediatr; 2002 Apr; 56(4):337-41. PubMed ID: 11927078
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Massachusetts Metabolic Disorders Screening Program. II. Methylmalonic aciduria.
    Coulombe JT; Shih VE; Levy HL
    Pediatrics; 1981 Jan; 67(1):26-31. PubMed ID: 7243433
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria].
    Liu YP; Li XY; Ding Y; Wang Q; Song JQ; Zhang Y; Li DX; Qin YP; Yang YL
    Zhonghua Er Ke Za Zhi; 2016 May; 54(5):365-9. PubMed ID: 27143079
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Methylmalonic aciduria in pregnancy: a case report.
    Diss E; Iams J; Reed N; Roe DS; Roe C
    Am J Obstet Gynecol; 1995 Mar; 172(3):1057-9. PubMed ID: 7892853
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Renal impairment in patients with methylmalonic aciduria: a review of five cases].
    Li JG; Huang JP; Xiao HJ; Yang YL; Yang JY
    Zhonghua Er Ke Za Zhi; 2005 Nov; 43(11):810-3. PubMed ID: 16316525
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA].
    Liu Y; Wu T; Wang H; Ding Y; Song J; Li X; Zhang Y; Wang Q; Yang Y
    Zhonghua Er Ke Za Zhi; 2015 Jan; 53(1):62-5. PubMed ID: 25748407
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.