Compounds > ethylmalonic acid
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ethylmalonic acid and Petechiae

ethylmalonic acid has been researched along with Petechiae in 9 studies

Research

Studies (9)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (22.22)18.2507
2000's1 (11.11)29.6817
2010's6 (66.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Peake, RWA; Rodan, LH1
Abdenur, JE; Boyer, M; Di Meo, I; Eftekharian, S; Sowa, M; Steenari, MR; Tiranti, V1
Gai, Z; Huang, Y; Liu, Y; Zhang, K1
Barth, M; Boddaert, N; Brivet, M; Chrétien, D; de Keyzer, Y; de Lonlay, P; Duran, M; Gobin, S; Hubert, L; Munnich, A; Ottolenghi, C; Rabier, D; Ricquier, D; Romano, S; Sefiani, A; Serre, V; Valayannopoulos, V; Vassault, A1
Bakri, I; Damsah, N; Dweikat, I; Libdeh, BA; Naser, E1
Athanassiadou-Piperopoulou, F; Augoustides-Savvopoulou, P; Gkampeta, A; Gregersen, N; Haas, D; Pavlou, E1
Barshop, BA; Haas, RH; McGowan, KA; Naviaux, RK; Nyhan, WL; Townsend, JJ; Yu, A1
Bennett, MJ; Bertini, E; Burlina, AB; Dionisi-Vici, C; Gibson, KM; Hale, DE; Sabetta, G; Schmidt-Sommerfeld, E; Servidei, S; Zacchello, F1
Arenas, J; Campos, Y; Garavaglia, B; García-Silva, MT; Ribes, A1

Other Studies

9 other study(ies) available for ethylmalonic acid and Petechiae

ArticleYear
Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation.
    Clinical chemistry, 2017, Volume: 63, Issue:11

    Topics: Brain Diseases, Metabolic, Inborn; Child, Preschool; Female; Humans; Malonates; Mitochondrial Proteins; Nucleocytoplasmic Transport Proteins; Purpura

2017
Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy.
    Molecular genetics and metabolism, 2018, Volume: 124, Issue:1

    Topics: Acetylcysteine; Amino Acids; Biomarkers; Brain Diseases, Metabolic, Inborn; Cysteine; Diet; Female; Humans; Infant; Infant, Newborn; Lactic Acid; Male; Malonates; Methionine; Metronidazole; Mitochondrial Proteins; Mutation; Neonatal Screening; Nucleocytoplasmic Transport Proteins; Purpura; Sulfur

2018
[Clinical and genetic analysis of a case with atypical ethyl malonate encephalopathy].
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2018, Oct-10, Volume: 35, Issue:5

    Topics: Brain Diseases, Metabolic, Inborn; Carnitine; Child, Preschool; Female; Genetic Testing; Humans; Malonates; Mitochondrial Proteins; Nucleocytoplasmic Transport Proteins; Point Mutation; Purpura

2018
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.
    Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3

    Topics: Amino Acids; Biomarkers; Brain Diseases, Metabolic, Inborn; Diet, Protein-Restricted; Dietary Supplements; Genetic Predisposition to Disease; Homozygote; Humans; Infant; Male; Malonates; Mitochondrial Proteins; Mutation; Nucleocytoplasmic Transport Proteins; Phenotype; Principal Component Analysis; Purpura; Treatment Outcome

2010
Ethylmalonic encephalopathy associated with crescentic glomerulonephritis.
    Metabolic brain disease, 2012, Volume: 27, Issue:4

    Topics: Brain Diseases, Metabolic, Inborn; Consanguinity; Exanthema; Fatal Outcome; Female; Glomerulonephritis; Humans; Infant; Kidney; Kidney Failure, Chronic; Malonates; Mutation; Nephrotic Syndrome; Pedigree; Proteinuria; Purpura

2012
An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder.
    Journal of child neurology, 2013, Volume: 28, Issue:5

    Topics: Alleles; Atrophy; Brain; Brain Diseases, Metabolic, Inborn; Chromosome Deletion; Diagnosis, Differential; DNA Mutational Analysis; Exons; Fatal Outcome; Humans; Image Interpretation, Computer-Assisted; Infant; Leukocytosis; Magnetic Resonance Imaging; Male; Malonates; Mitochondrial Proteins; Nucleocytoplasmic Transport Proteins; Purpura; Thrombocytosis

2013
The role of methionine in ethylmalonic encephalopathy with petechiae.
    Archives of neurology, 2004, Volume: 61, Issue:4

    Topics: Amino Acids; Brain; Brain Diseases, Metabolic, Inborn; Caudate Nucleus; Fatal Outcome; Female; Follow-Up Studies; Humans; Infant; Isoleucine; Male; Malonates; Methionine; Pedigree; Purpura; Substantia Nigra; Syndrome

2004
A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.
    The Journal of pediatrics, 1994, Volume: 124, Issue:1

    Topics: Acyl-CoA Dehydrogenase; Brain; Chronic Disease; Cyanosis; Diarrhea; Fatty Acid Desaturases; Fatty Acids; Fibroblasts; Humans; Infant; Intellectual Disability; Isoleucine; Male; Malonates; Oxidation-Reduction; Paralysis; Purpura; Syndrome

1994
Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria.
    Pediatric neurology, 1997, Volume: 17, Issue:2

    Topics: Brain; Cytochrome-c Oxidase Deficiency; DNA, Mitochondrial; Humans; Infant; Leigh Disease; Male; Malonates; Muscle, Skeletal; Purpura

1997