Literature DB >> 7957395

Neuroradiological and neurophysiological indices for neurometabolic disorders.

A Kohlschütter1.   

Abstract

The diagnosis of a neurometabolic disease is usually suggested by clinical history and physical findings and is confirmed by appropriate special studies which may include neuroradiological and neurophysiological investigations. On the other hand, routine neuroradiological and neurophysiological studies may incidentally produce results suggestive of a neurometabolic disorder. This overview contains a set of tables meant to be helpful in deciding which CT, MRI, and electrophysiological studies are indicated when certain neurometabolic disorders are suspected or which disorders must be considered after such studies have produced certain suggestive results.

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Year:  1994        PMID: 7957395     DOI: 10.1007/BF02138785

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  26 in total

1.  Acute hemiparesis as the presenting sign in a heterozygote for ornithine transcarbamylase deficiency.

Authors:  T J de Grauw; L M Smit; M Brockstedt; Y Meijer; J vd Klei-von Moorsel; C Jakobs
Journal:  Neuropediatrics       Date:  1990-08       Impact factor: 1.947

Review 2.  Value of neuroimaging in metabolic diseases affecting the CNS.

Authors:  S Naidu; H W Moser
Journal:  AJNR Am J Neuroradiol       Date:  1991 May-Jun       Impact factor: 3.825

3.  Metabolic stroke in methylmalonic acidemia.

Authors:  G N Thompson; J Christodoulou; D M Danks
Journal:  J Pediatr       Date:  1989-09       Impact factor: 4.406

4.  Sonographic and computed tomographic findings in Canavan's disease.

Authors:  P J Patel; T M Kolawole; A H Mahdi; E A Wright
Journal:  Br J Radiol       Date:  1986-12       Impact factor: 3.039

5.  Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus.

Authors:  R Heidenreich; M Natowicz; B E Hainline; P Berman; R I Kelley; R E Hillman; G T Berry
Journal:  J Pediatr       Date:  1988-12       Impact factor: 4.406

6.  Infantile cardiomyopathy and neuromyopathy with beta-galactosidase deficiency.

Authors:  A Kohlschütter; K Sieg; F J Schulte; H W Hayek; H H Goebel
Journal:  Eur J Pediatr       Date:  1982-09       Impact factor: 3.183

7.  Hyperprolinaemia type I and white matter disease: coincidence or causal relationship?

Authors:  M Steinlin; E Boltshauser; B Steinmann; W Wichmann; G Niemeyer
Journal:  Eur J Pediatr       Date:  1989-10       Impact factor: 3.183

8.  MR of Leigh's disease (subacute necrotizing encephalomyelopathy).

Authors:  P C Davis; J C Hoffman; I F Braun; P Ahmann; N Krawiecki
Journal:  AJNR Am J Neuroradiol       Date:  1987 Jan-Feb       Impact factor: 3.825

9.  A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis.

Authors:  J Aicardi; F Goutières
Journal:  Ann Neurol       Date:  1984-01       Impact factor: 10.422

10.  [Hallervorden-Spatz syndrome. Indicative findings in cranial computerized and magnetic resonance tomography for intra vitam diagnosis].

Authors:  G Kurlemann; G Bongartz; K Kuchelmeister; D G Palm
Journal:  Monatsschr Kinderheilkd       Date:  1991-09       Impact factor: 0.323

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  2 in total

Review 1.  Neurological manifestations of organic acid disorders.

Authors:  G F Hoffmann; K M Gibson; F K Trefz; W L Nyhan; H J Bremer; D Rating
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

2.  Cranial ultrasound in metabolic disorders presenting in the neonatal period: characteristic features and comparison with MR imaging.

Authors:  L M Leijser; L S de Vries; M A Rutherford; A Y Manzur; F Groenendaal; T J de Koning; M van der Heide-Jalving; F M Cowan
Journal:  AJNR Am J Neuroradiol       Date:  2007-08       Impact factor: 3.825

  2 in total

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