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612 results on '"Glutaric aciduria"'

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351. Outcome of three cases of untreated maternal glutaric aciduria type I

352. Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience

353. Inborn Errors of Metabolism

354. A novel ETFB mutation in a patient with glutaric aciduria type II

355. Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I

356. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

357. Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders

358. Glutaric aciduria type II: a case report

359. NEUROLOGICAL OUTCOME AND LONG-TERM COURSE IN GLUTARIC ACIDEMIA TYPE I

360. L-2-OH-GLUTARIC ACIDURIA – REPORT ON NEUROIMAGING FINDINGS IN 3 CASES

363. Glutaric aciduria type I: a serious pitfall if diagnosed too late

364. Neonatal screening for glutaric aciduria type I: strategies to proceed

366. Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation

367. Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I

368. Favourable outcome in a child with symptomatic diagnosis of Glutaric aciduria type 1 despite vertical HIV infection and minor head trauma.

369. Glutaric aciduria type II

370. Glutaric aciduria type I: outcome in the Republic of Ireland

371. Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options

372. Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

373. Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)

374. Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I

375. Bilateral pallidotomy for severe dystonia in an 18-month-old child with glutaric aciduria

376. Pathophysiology, diagnosis, and treatment of methylmalonic aciduria?recent advances and new challenges

377. Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy

378. Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitis

379. Type I glutaric aciduria, part 1: natural history of 77 patients

380. Glutaric aciduria I: creatine supplementation restores creatinephosphate levels in mixed cortex cells from rat incubated with 3-hydroxyglutarate

381. Glutaric aciduria type III: a distinctive non-disease?

382. Late-onset form of beta-electron transfer flavoprotein deficiency

383. A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000

384. The anesthetic management of ventricular septal defect (VSD) repair in a child with mitochondrial cytopathy

385. Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families

386. Defects of β-oxidation including carnitine deficiency

387. Chronic subdural hematoma, as an initial manifestation of glutaric aciduria type-1

388. Atypical and variable clinical presentation of glutaric aciduria type I

389. Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients

390. Inhibition of in vitro CO2 production and lipid synthesis by 2-hydroxybutyric acid in rat brain

391. Mutation analysis in glutaric aciduria type I

392. Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I

393. Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management

395. Difficult Management of Glucose Homeostasis in a 21-Month-Old Child With Type 1 Diabetes and Unknown Glutaric Aciduria Type I: A Case Report.

396. L-2 hydroxyglutaric aciduria as a rare cause of leukencephalopathy in adults.

397. Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type II

398. Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurments by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I

399. Vigabatrin in the treatment of glutaric aciduria type I

400. Update on expanded newborn screening.

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