Literature DB >> 9053553

Diagnostic work-up of a peroxisomal patient.

J G Leroy1, M Espeel, J F Gadisseux, H Mandel, M Martinez, B T Poll-The, R J Wanders, F Roels.   

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Year:  1995        PMID： 9053553     DOI： 10.1007/bf00711440

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


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  40 in total

1.  Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.

Authors:  J A Smeitink; F A Beemer; M Espeel; R A Donckerwolcke; C Jakobs; R J Wanders; R B Schutgens; F Roels; M Duran; L Dorland
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  A new type of chondrodysplasia punctata associated with peroxisomal dysfunction.

Authors:  B T Poll-The; P Maroteaux; C Narcy; P Quetin; M Guesnu; R J Wanders; R B Schutgens; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

Review 3.  The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome.

Authors:  W Krivit; L A Lockman; P A Watkins; J Hirsch; E G Shapiro
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 4.  Human liver pathology in peroxisomal diseases: a review including novel data.

Authors:  F Roels; M Espeel; F Poggi; H Mandel; L van Maldergem; J M Saudubray
Journal:  Biochimie       Date:  1993       Impact factor: 4.079

5.  Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder.

Authors:  H Mandel; D Meiron; R B Schutgens; R J Wanders; M Berant
Journal:  J Pediatr Gastroenterol Nutr       Date:  1992-01       Impact factor: 2.839

6.  Cytoplasmic catalase and ghostlike peroxisomes in the liver from a child with atypical chondrodysplasia punctata.

Authors:  M Espeel; J C Heikoop; J A Smeitink; F A Beemer; D De Craemer; M Van den Berg; T Hashimoto; R J Wanders; R B Schutgens; B T Poll-The
Journal:  Ultrastruct Pathol       Date:  1993 Nov-Dec       Impact factor: 1.094

7.  Hyperpipecolic acidemia: clinical and biochemical observations in two male siblings.

Authors:  B K Burton; S P Reed; W T Remy
Journal:  J Pediatr       Date:  1981-11       Impact factor: 4.406

8.  Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.

Authors:  J Gärtner; H Moser; D Valle
Journal:  Nat Genet       Date:  1992-04       Impact factor: 38.330

Review 9.  Komrower Lecture. Adrenoleukodystrophy: natural history, treatment and outcome.

Authors:  H W Moser
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

10.  Evidence that pentoxifylline reduces anti-CD3 monoclonal antibody-induced cytokine release syndrome.

Authors:  M L Alegre; K Gastaldello; D Abramowicz; P Kinnaert; P Vereerstraeten; L De Pauw; P Vandenabeele; M Moser; O Leo; M Goldman
Journal:  Transplantation       Date:  1991-10       Impact factor: 4.939
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  1 in total

1.  Peroxisome biogenesis disorders.

Authors:  Catherine Argyriou; Maria Daniela D'Agostino; Nancy Braverman
Journal:  Transl Sci Rare Dis       Date:  2016-11-07
  1 in total

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