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Literature DB >> 3046503

Inherited peroxisomal disorders involving the nervous system.

J B Stephenson¹.

Abstract

Entities: Disease

Mesh：

Year: 1988 PMID： 3046503 PMCID： PMC1779067 DOI： 10.1136/adc.63.7.767

Source DB: PubMed Journal: Arch Dis Child ISSN： 0003-9888 Impact factor: 3.791

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18 in total

1. Neonatal adrenoleukodystrophy.

Authors: P Aubourg; J Scotto; F Rocchiccioli; D Feldmann-Pautrat; O Robain
Journal: J Neurol Neurosurg Psychiatry Date: 1986-01 Impact factor: 10.154

2. Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities.

Authors: S Goldfischer; J Collins; I Rapin; P Neumann; W Neglia; A J Spiro; T Ishii; F Roels; J Vamecq; F Van Hoof
Journal: J Pediatr Date: 1986-01 Impact factor: 4.406

3. Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children.

Authors: S S Budden; N G Kennaway; N R Buist; A Poulos; R G Weleber
Journal: J Pediatr Date: 1986-01 Impact factor: 4.406

4. Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.

Authors: A W Schram; S Goldfischer; C W van Roermund; E M Brouwer-Kelder; J Collins; T Hashimoto; H S Heymans; H van den Bosch; R B Schutgens; J M Tager
Journal: Proc Natl Acad Sci U S A Date: 1987-04 Impact factor: 11.205

Review 5. Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.

Authors: R I Kelley; N S Datta; W B Dobyns; A K Hajra; A B Moser; M J Noetzel; E H Zackai; H W Moser
Journal: Am J Med Genet Date: 1986-04

6. Myopathy in an infant with a fatal peroxisomal disorder.

Authors: J Wolff; W L Nyhan; H Powell; D Takahashi; J Hutzler; A K Hajra; N S Datta; I Singh; H W Moser
Journal: Pediatr Neurol Date: 1986 May-Jun Impact factor: 3.372

7. Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome.

Authors: E M Bleeker-Wagemakers; J W Oorthuys; R J Wanders; R B Schutgens
Journal: Clin Genet Date: 1986-02 Impact factor: 4.438

8. Multiple peroxisomal enzymatic deficiency disorders. A comparative biochemical and morphologic study of Zellweger cerebrohepatorenal syndrome and neonatal adrenoleukodystrophy.

Authors: J Vamecq; J P Draye; F Van Hoof; J P Misson; P Evrard; G Verellen; H J Eyssen; J Van Eldere; R B Schutgens; R J Wanders
Journal: Am J Pathol Date: 1986-12 Impact factor: 4.307

9. Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment--mass spectrometry of urine bile salts.

Authors: A M Lawson; M J Madigan; D Shortland; P T Clayton
Journal: Clin Chim Acta Date: 1986-12-15 Impact factor: 3.786

5. Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis.

Authors: Y Suzuki; N Shimozawa; S Yajima; S Tomatsu; N Kondo; Y Nakada; S Akaboshi; M Lai; Y Tanabe; T Hashimoto
Journal: Am J Hum Genet Date: 1994-01 Impact factor: 11.025

5 in total

Inherited peroxisomal disorders involving the nervous system.

1. Neonatal adrenoleukodystrophy.

2. Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities.

3. Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children.

4. Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.

Review 5. Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.

6. Myopathy in an infant with a fatal peroxisomal disorder.

7. Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome.

8. Multiple peroxisomal enzymatic deficiency disorders. A comparative biochemical and morphologic study of Zellweger cerebrohepatorenal syndrome and neonatal adrenoleukodystrophy.

9. Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment--mass spectrometry of urine bile salts.

10. A milder variant of Zellweger syndrome.

Review 1. Diagnosis and management of inborn errors of metabolism.

2. Adrenoleucodystrophy.

3. Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course.

4. Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase cDNA.

5. Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis.