Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology (Q48407778)

11 February 2018

title

Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology (English)

1 reference

8 November 2023

6

J M Opitz

1 reference

11 February 2018

author name string

K. W. Gilchrist

1

1 reference

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8 November 2023

E. F. Gilbert

2

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8 November 2023

S. Goldfarb

3

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8 November 2023

U. Goll

4

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J. W. Spranger

5

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8 November 2023

language of work or name

English

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1248488

8 November 2023

publication date

1 January 1976

1 reference

11 February 2018

2 January 1976

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1248488

full work available at URL

8 November 2023

http://link.springer.com/content/pdf/10.1007/BF00443065.pdf

file format

Portable Document Format

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http://link.springer.com/article/10.1007/BF00443065/fulltext.html

8 November 2023

1 reference

http://link.springer.com/content/pdf/10.1007/BF00443065

8 November 2023

1 reference

European Journal of Pediatrics

8 November 2023

published in

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11 February 2018

volume

121

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11 February 2018

issue

2

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11 February 2018

page(s)

99-118

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11 February 2018

Iron, copper and manganese in human organs at various ages

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF00443065

Roentgenographic features of the cerebrohepatorenal syndrome of Zellweger

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF00443065

[Disorders of neuronal migration in Zellwegers cerebrohepato-renal syndrome (author's transl)]

21 January 2018

1 reference

12 December 2020

Heterogeneity of Chondrodysplasia punctata

1 reference

12 December 2020

Use of emission spectrograph for study of inorganic elements in human tissues

1 reference

12 December 2020

Cerebro-hepato-renal Syndrome of Zellweger

1 reference

12 December 2020

Cerebro-hepato-renal syndrome of Zellweger. Two patients with islet cell hyperplasia, hypoglycemia, and thymic anomalies, and comments on iron metabolism

1 reference

12 December 2020

Involuting and scarred glomeruli in the kidneys of infants

1 reference

12 December 2020

Considerations of the pathogenesis of neonatal hepatitis, biliary atresia and choledochal cyst--the concept of infantile obstructive cholangiopathy

1 reference

12 December 2020

Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism

1 reference

12 December 2020

STUDIES ON NECROSIS OF MOUSE LIVER IN VITRO. ULTRASTRUCTURAL ALTERATIONS IN THE MITOCHONDRIA OF HEPATIC PARENCHYMAL CELLS

1 reference

12 December 2020

The cerebro-hepato-renal syndrome (CHRS) (Zellweger's syndrome)

1 reference

12 December 2020

Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration

1 reference

12 December 2020

The effect of glutaraldehyde on catalase. Biochemical and cytochemical studies with beef liver catalase and rat liver peroxisomes

1 reference

12 December 2020

Congenital and Familial Iron Overload

1 reference

12 December 2020

A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings.

1 reference

12 December 2020

Iron storage in the first five years of life

1 reference

12 December 2020

The number of alveoli in the terminal respiratory unit of man during late intrauterine life and childhood

1 reference

12 December 2020

The histographic analysis of human muscle biopsies with regard to fiber types. 4. Children's biopsies

1 reference

12 December 2020

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

1 reference

12 December 2020

The cerebro-hepato-renal syndrome (Zellweger's syndrome).

1 reference

12 December 2020

Idiopathic neonatal hemochromatosis in siblings. An inborn error of metabolism

1 reference

12 December 2020

Perinatal idiopathic hemochromatosis: giant cell hepatitis interpreted as an inborn error of metabolism

1 reference

12 December 2020

Letter: Immunodeficiency in the cerebro-hepato-renal syndrome of Zellweger

1 reference

12 December 2020

The renal lesion in syndromes of multiple congenital malformations. Cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome

1 reference

12 December 2020

Cerebro-hepato-renal syndrome. A newly recognized hereditary disorder of multiple congenital defects, including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys.

1 reference

12 December 2020

Birth defects original article series

1

V/2

144

J. M. Opitz

1969

1 reference

Birth defects original article series

8 November 2023

16

X/4

35

J. Bernstein

1973

1 reference

8 November 2023

Identifiers

DOI

10.1007/BF00443065

1 reference

11 February 2018

1 reference

11 February 2018