Literature DB >> 4162745

Refsum's disease: a disorder of lipid metabolism.

M Rake, M Saunders.   

Abstract

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Year:  1966        PMID： 4162745      PMCID： PMC496071          DOI： 10.1136/jnnp.29.5.417

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  9 in total

1.  [REFSUM'S SYNDROME (HEREDOPATHIA ATACTICA POLYNEURITIFORMIS): CONGENITAL DISORDER OF LIPID METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYL-HEXADECANOIC ACID].

Authors:  R RICHTERICH; W KAHLKE; E ROSSI
Journal:  Klin Wochenschr       Date:  1963-08-15

2.  HEREDOPATHIA ATACTICA POLYNEURITIFORMIS (REFSUM'S DISEASE)--A DEFECT IN THE OMEGA-OXIDATION MECHANISM OF FATTY ACIDS.

Authors:  L ELDJARN
Journal:  Scand J Clin Lab Invest       Date:  1965       Impact factor: 1.713

3.  REFSUM'S DISEASE (HERECOPATHIA ATACTICA POLYNEURITIFORMIS): AN INBORN ERROR OF LIPID METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYL HEXADECANOIC ACID. II. ISOLATION AND IDENTIFICATION OF THE STORAGE PRODUCT.

Authors:  W KAHLKE; R RICHTERICH
Journal:  Am J Med       Date:  1965-08       Impact factor: 4.965

4.  REFSUM'S DISEASE (HEREDOPATHIA ATACTICA POLYNEURITIFORMIS): AN INBORN ERROR OF LIPID METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYL HEXADECANOIC ACID. I. REPORT OF A CASE.

Authors:  R RICHTERICH; P VANMECHELEN; E ROSSI
Journal:  Am J Med       Date:  1965-08       Impact factor: 4.965

5.  [REFSUM'S SYNDROME.--LIPOID CHEMICAL RESEARCH IN 9 CASES].

Authors:  W KAHLKE
Journal:  Klin Wochenschr       Date:  1964-10-15

6.  Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis.

Authors:  L Eldjarn; K Try; O Stokke; A W Munthe-Kaas; S Refsum; D Steinberg; J Avigan; C Mize
Journal:  Lancet       Date:  1966-03-26       Impact factor: 79.321

7.  Refsum's syndrome; heredopathia atactica polyneuritiformis; a report of three cases, including a study of the cardiac pathology.

Authors:  N GORDON; R E HUDSON
Journal:  Brain       Date:  1959-03       Impact factor: 13.501

8.  [ON THE PRESENCE OF 3,7,11,15-TETRAMETHYLHEXADECANOIC ACID (PHYTANIC ACID) IN THE CHOLESTEROL ESTERS AND OTHER LIPOID FRACTIONS OF THE ORGANS IN A CASE OF A DISEASE OF UNKNOWN ORIGIN (POSSIBLY HEREDOPATHIA ATACTICA POLYNEURITIFORMIS, REFSUM'S SYNDROME)].

Authors:  E KLENK; W KAHIKE
Journal:  Hoppe Seylers Z Physiol Chem       Date:  1963

9.  Neuropathological changes in hereditary neuropathies: manifestation of the syndrome heredopathia atactica polyneuritiformis in the presence of interstitial hypertrophic polyneuropathy.

Authors:  J CAMMERMEYER
Journal:  J Neuropathol Exp Neurol       Date:  1956-07       Impact factor: 3.685
  9 in total
  3 in total

Review 1.  Generation of mouse-human chimeric embryos.

Authors:  Boyang Zhang; Hanqin Li; Zhixing Hu; Houbo Jiang; Aimee B Stablewski; Brandon J Marzullo; Donald A Yergeau; Jian Feng
Journal:  Nat Protoc       Date:  2021-07-02       Impact factor: 13.491

2.  Pathological changes in the terminal parts of Purkynĕ cell axons in the dentate nucleus of the cerebellum.

Authors:  I Janota
Journal:  J Neurol Neurosurg Psychiatry       Date:  1973-08       Impact factor: 10.154

3.  Refsum's syndrome: report of three cases.

Authors:  C D Quinlan; E A Martin
Journal:  J Neurol Neurosurg Psychiatry       Date:  1970-12       Impact factor: 10.154
  3 in total

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