0000000000207889

AUTHOR

B. Walther

showing 2 related works from this author

Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I …

1992

A newborn male with mitochondrial complex I deficiency suffered from neonatal epileptic seizures, which later developed into infantile spasms. The infant was blind due to aplasia of the retinal vessels and hypoplasia of the optic nerve. There was congenital lactic acidosis, which persisted in later life. The boy was microcephalic and retarded. Muscular hypotonia later shifted to spasticity. Succinic acid was increased in urine. We assume that the aplasia of the retinal vessels is due to damage of the retinal ganglion cells caused by the mitochondrial disease in the first 3 to 4 months of pregnancy.

Malecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyCongenital lactic acidosisRetinal ganglionInternal medicineMedicineHumansNADH NADPH OxidoreductasesOptic nerve hypoplasiaRetinaElectron Transport Complex IEpilepsybusiness.industryInfant NewbornBrainRetinal VesselsOptic NerveAplasiamedicine.diseaseHypoplasiaMitochondriabody regionsEndocrinologymedicine.anatomical_structureLactic acidosisPediatrics Perinatology and Child HealthOptic nerveAcidosis LacticbusinessTomography X-Ray ComputedEuropean journal of pediatrics
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CHARACTERIZATION OF MICROSOMAL CYTOCHROME P450-DEPENDENT MONOOXYGENASES IN THE RAT OLFACTORY MUCOSA

2005

Nasal administration of a drug ensures therapeutic action by rapid systemic absorption and/or the entry of some molecules into the brain through different routes. Many recent studies have pointed out the presence of xenobiotic-metabolizing enzymes in rat olfactory mucosa (OM). Nevertheless, very little is known about the precise identity of isoforms of cytochrome P450 (P450)-dependent monooxygenases (P450) and their metabolic function in this tissue. Therefore, we evaluated mRNA expression of 19 P450 isoforms by semiquantitative reverse transcriptase-polymerase chain reaction and measured their microsomal activity toward six model substrates. For purposes of comparison, studies were conduct…

MaleGene isoformPharmaceutical ScienceOlfactionSubstrate SpecificityOlfactory mucosaOlfactory MucosaMicrosomesmedicineAnimalsRNA MessengerEnzyme InhibitorsRats WistarPharmacologychemistry.chemical_classificationbiologyReverse Transcriptase Polymerase Chain ReactionCYP1A2Cytochrome P450MonooxygenaseRatsIsoenzymesKineticsEnzymemedicine.anatomical_structureBiochemistrychemistryMicrosomes Liverbiology.proteinMicrosomeAryl Hydrocarbon HydroxylasesDrug Metabolism and Disposition
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