[go: up one dir, main page]

Dimer et al., 2015 - Google Patents

D-glyceric aciduria

Dimer et al., 2015

View HTML
Document ID
12528244900022436072
Author
Dimer N
Schuck P
Streck E
Ferreira G
Publication year
Publication venue
Anais da Academia Brasileira de Ciências

External Links

Snippet

Inherited metabolic diseases are a heterogeneous group of diseases caused by a punctual defect in cell metabolism, resulting in the accumulation of toxic intermediate metabolites or in the lack of important biomolecules for adequate cell functioning. D-glyceric aciduria is an …
Continue reading at www.scielo.br (HTML) (other versions)

Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Hybridisation probes
    • C12Q1/6883Hybridisation probes for diseases caused by alterations of genetic material

Similar Documents

Publication Publication Date Title
Williams et al. Phenylketonuria: an inborn error of phenylalanine metabolism
Chaurasia et al. Ceramides–lipotoxic inducers of metabolic disorders
Steinberg et al. Peroxisome biogenesis disorders
Haemmerle et al. Letting lipids go: hormone-sensitive lipase
Schulze Creatine deficiency syndromes
Clayton et al. Mutations in the sterol 27-hydoxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis
Kane et al. Ethanol elevates physiological all-trans-retinoic acid levels in select loci through altering retinoid metabolism in multiple loci: a potential mechanism of ethanol toxicity
Gründahl et al. Life with too much polyprenol: polyprenol reductase deficiency
Ferreira et al. Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability
Puckett et al. Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms
EP3689343A1 (en) Neurodegenerative disorders and methods of treatment and diagnosis thereof using anaplerotic agents
Gross et al. Plasma metabolites related to cellular energy metabolism are altered in adults with Down syndrome and Alzheimer's disease
Lieu et al. Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation
Helander et al. Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation
Chen et al. Mutation scanning of the COQ2 gene in ethnic Chinese patients with multiple-system atrophy
Yang et al. Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency: two case reports and the review of the literature
Gardner et al. Elevated nuclear sphingoid base-1-phosphates and decreased histone deacetylase activity after fumonisin B1 treatment in mouse embryonic fibroblasts
Dimer et al. D-glyceric aciduria
Lindholm et al. Gender differences in GAD antibody–positive diabetes mellitus in relation to age at onset, C‐peptide and other endocrine autoimmune diseases
Zhao et al. Large‐scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease
Zabielski et al. Impact of insulin deprivation and treatment on sphingolipid distribution in different muscle subcellular compartments of streptozotocin-diabetic C57Bl/6 mice
Ciana et al. In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy
Nogueira et al. Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction
Veeravigrom et al. Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report
Almannai et al. 6-Pyruvoyltetrahydropterin synthase deficiency: Review and report of 28 Arab subjects