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Literature DB >> 7807941

Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder.

R J Wanders¹, C Dekker, V A Hovarth, R B Schutgens, J M Tager, P Van Laer, D Lecoutere.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 1994 PMID： 7807941 DOI： 10.1007/bf00711817

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

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7 in total

Review 1. Biochemistry of peroxisomes.

Authors: H van den Bosch; R B Schutgens; R J Wanders; J M Tager
Journal: Annu Rev Biochem Date: 1992 Impact factor: 23.643

2. Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder.

Authors: R J Wanders; H Schumacher; J Heikoop; R B Schutgens; J M Tager
Journal: J Inherit Metab Dis Date: 1992 Impact factor: 4.982

3. Heterogeneity of Chondrodysplasia punctata.

Authors: J W Spranger; J M Opitz; U Bidder
Journal: Humangenetik Date: 1971

Review 4. Peroxisomal disorders in neurology.

Authors: R J Wanders; H S Heymans; R B Schutgens; P G Barth; H van den Bosch; J M Tager
Journal: J Neurol Sci Date: 1988-12 Impact factor: 3.181

Review 5. The structure and biosynthesis of glycosyl phosphatidylinositol protein anchors.

Authors: P T Englund
Journal: Annu Rev Biochem Date: 1993 Impact factor: 23.643

Review 6. Postnatal diagnosis of peroxisomal disorders: a biochemical approach.

Authors: R J Wanders; R B Schutgens; P G Barth; J M Tager; H van den Bosch
Journal: Biochimie Date: 1993 Impact factor: 4.079

7. Class F Thy-1-negative murine lymphoma cells are deficient in ether lipid biosynthesis.

Authors: V L Stevens; C R Raetz
Journal: J Biol Chem Date: 1990-09-15 Impact factor: 5.157

7 in total

26 in total

1. Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders.

Authors: P Vreken; F Valianpour; H Overmars; P G Barth; J J Selhorst; A H van Gennip; R J Wanders
Journal: J Inherit Metab Dis Date: 2000-06 Impact factor: 4.982

Review 2. Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.

Authors: P E Purdue; M Skoneczny; X Yang; J W Zhang; P B Lazarow
Journal: Neurochem Res Date: 1999-04 Impact factor: 3.996

Review 3. Peroxisomal disorders: clinical, biochemical, and molecular aspects.

Authors: R J Wanders
Journal: Neurochem Res Date: 1999-04 Impact factor: 3.996

Review 4. Diagnostic work-up of a peroxisomal patient.

Authors: J G Leroy; M Espeel; J F Gadisseux; H Mandel; M Martinez; B T Poll-The; R J Wanders; F Roels
Journal: J Inherit Metab Dis Date: 1995 Impact factor: 4.982

5. Plasmalogens and oxidative stress: evidence against a major role of plasmalogens in protection against the superoxide anion radical.

Authors: G A Jansen; R J Wanders
Journal: J Inherit Metab Dis Date: 1997-03 Impact factor: 4.982

Review 6. Plasmalogens, phospholipase A2, and docosahexaenoic acid turnover in brain tissue.

Authors: A A Farooqui; L A Horrocks
Journal: J Mol Neurosci Date: 2001 Apr-Jun Impact factor: 3.444

7. A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.

Authors: Muhammad Ali; Shahid Y Khan; Tony A Rodrigues; Tânia Francisco; Xiaodong Jiao; Hang Qi; Firoz Kabir; Bushra Irum; Bushra Rauf; Asma A Khan; Azra Mehmood; Muhammad Asif Naeem; Muhammad Zaman Assir; Muhammad Hassaan Ali; Mohsin Shahzad; Khaled K Abu-Amero; Shehla Javed Akram; Javed Akram; Sheikh Riazuddin; Saima Riazuddin; Michael L Robinson; Myriam Baes; Jorge E Azevedo; J Fielding Hejtmancik; S Amer Riazuddin
Journal: Hum Genet Date: 2021-01-02 Impact factor: 4.132