(Q50571924)

15 March 2018

title

Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. (English)

1 reference

15 March 2018

1 reference

infantile Refsum disease

1 reference

B T Poll-The

1

1 reference

15 March 2018

J M Saudubray

2

1 reference

15 March 2018

H A Ogier

3

1 reference

15 March 2018

M Odièvre

4

1 reference

15 March 2018

J M Scotto

5

1 reference

15 March 2018

L Monnens

6

1 reference

15 March 2018

L C Govaerts

7

1 reference

15 March 2018

F Roels

8

1 reference

15 March 2018

A Cornelis

9

1 reference

15 March 2018

R B Schutgens

10

1 reference

15 March 2018

publication date

1 September 1987

1 reference

15 March 2018

European Journal of Pediatrics

published in

1 reference

15 March 2018

volume

146

1 reference

15 March 2018

page(s)

477-483

1 reference

15 March 2018

issue

5

1 reference

15 March 2018

https://scigraph.springernature.com/pub.10.1007/bf00441598

exact match

0 references

cites work

New phenotypic variant of adrenoleukodystrophy. Pathologic, ultrastructural, and biochemical study in two brothers

1 reference

12 December 2020

Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females

1 reference

12 December 2020

Impaired plasmalogen metabolism in infantile Refsum's disease

1 reference

12 December 2020

Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome

1 reference

12 December 2020

Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases

1 reference

12 December 2020

Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction.

1 reference

12 December 2020

Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies

1 reference

12 December 2020

A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells

1 reference

12 December 2020

Hyperpipecolic acidemia in neonatal adrenoleukodystrophy.

1 reference

12 December 2020

Identification of 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestan-26-oic acid, an intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease

1 reference

12 December 2020

Hyperpipecolic acidemia: clinical and biochemical observations in two male siblings

1 reference

12 December 2020

Disturbed adrenocortical function in cerebro-hepato-renal syndrome of Zellweger

1 reference

12 December 2020

Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids.

1 reference

12 December 2020

Neonatal-onset adrenoleukodystrophy in a girl

1 reference

12 December 2020

The cerebro-hepato-renal (Zellweger) syndrome: lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma.

1 reference

12 December 2020

Prenatal diagnosis of Zellweger cerebrohepatorenal syndrome.

1 reference

12 December 2020

Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata.

1 reference

12 December 2020

Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.

1 reference

12 December 2020

The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens.

1 reference

12 December 2020

Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?

1 reference

12 December 2020

Adrenoleukodystrophy. Preliminary report of a connatal case. Light- and electron microscopical, immunohistochemical and biochemical findings

1 reference

12 December 2020

Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver.

1 reference

12 December 2020

Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome.

1 reference

12 December 2020

Absence of hepatic peroxisomes in a case of infantile Refsum's disease

1 reference

12 December 2020

The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.

1 reference

12 December 2020

Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome.

1 reference

12 December 2020

Antenatal diagnosis of infantile Refsum's disease

1 reference

12 December 2020

Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome

1 reference

12 December 2020

A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS

1 reference

12 December 2020

Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients

1 reference

12 December 2020

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

1 reference

12 December 2020

[Increased concentration of phytanic acid in plasma and liver of an infant with cerebral damage of unknown etiology (author's transl)]

1 reference

12 December 2020

Cytochemistry of human catalase. The demonstration of hepatic and renal peroxisomes by a high temperature procedure

1 reference

12 December 2020

Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a disturbance in the metabolism of pipecolic acid.

1 reference

12 December 2020

The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid levels in cultured amniocytes and fetal adrenal gland

1 reference

12 December 2020

The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects

1 reference

12 December 2020

Defects of Bile Acid Synthesis in Zellweger's Syndrome

1 reference

12 December 2020

Peroxisomal disorders: a newly recognised group of genetic diseases

1 reference

12 December 2020

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

1 reference

12 December 2020

Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome).

1 reference

12 December 2020

Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins

1 reference

12 December 2020

Plasma and skin fibroblast C26 fatty acids in infantile Refsum's disease

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00441598

1 reference

15 March 2018

PubMed ID

2445576

1 reference

15 March 2018