CoChat
Sign Up
Cited by 62Metabolism and Genetic DisordersFetal and Pediatric Neurological DisordersNeurological diseases and metabolism

Studies of malformation syndromes of man XIB: The cerebro-hepato-renal syndrome of Zellweger: Comparative pathology

Gilchrist, Kennedy W., Gilbert, Enid F., Goldfarb, Stanley, Goll, U., Spranger, Jurgen W., Opitz, John M.·1976·European Journal of Pediatrics
DOI 10.1007/bf00443065
Open this paper in CoChat — free account

Abstract

A study of 11 autopsied cases of the cerebro-hepato-renal syndrome of Zellweger (ZS) is reported. All cases had severe, persistent congenital hypotonia, hepatic lobular disarray, renal cortical cysts and pulmonary hypoplasia. Many had cardiovascular malformations, hepatomegaly, cerebral cortical gyral maldevelopment and pancreatic islet hyperplasia. Additional, less frequent findings are delineated. Results of iron content studies of hepatic and renal tissues are related to age of survival and possible development of fibrosis.

Integrity signals

Registry

Crossref · 10.1007/bf00443065

Cites

1 of 1 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Lipid-laden macrophages are a pathognomonic feature of peroxisomal disorders, likely due to the inability of these cells to fully degrade VLCFAs.

    “Lipid-laden macrophages are a pathognomonic feature of peroxisomal disorders [385,386], likely due to the inability of these cells to fully degrade VLCFAs.”

    From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [386]

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Authors
Gilchrist, K. W., Gilbert, E. F., Goldfarb, S., Goll, U., Spranger, J. W., & Opitz, J. M.
Affiliations
  • University of Wisconsin–Madison (US)
  • Christian-Albrechts-Universität zu Kiel (DE)
ORCID
Opitz, John M.
Venue
European Journal of Pediatrics
Publisher
Springer Science and Business Media LLC
Published
1976
Volume
121
Issue
2
Pages
99-118
ISSN
  • 0340-6199 (ISSN-L)
  • 0340-6997
  • 1432-1076
DOI
10.1007/bf00443065
OpenAlex
W2318537264
Cited by
62
References
1
Citations by year
2025: 1 · 2024: 1 · 2023: 1 · 2022: 3 · 2021: 1 · 2020: 1 · 2019: 1 · 2018: 1 · 2017: 1 · 2016: 1 · 2014: 2 · 2012: 1
FWCI
2.17
Type
journal article
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • European Journal of Pediatrics (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
  • Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Keywords
Zellweger syndrome, cerebro-hepato-renal syndrome, inborn errors of metabolism, congenital hypotonia, pulmonary hypoplasia, cardiovascular anomalies, hepatomegaly, pancreatic islet hyperplasia, hepatic iron content, fibrosis, autopsy findings
MeSH terms
Abnormalities, Multiple, Bile Ducts, Intrahepatic, Brain, Connective Tissue, Female, Heart Defects, Congenital, Hepatomegaly, Humans, Infant, Infant, Newborn, Iron, Kidney, Liver, Liver Cirrhosis, Male, Neurologic Manifestations, Siderosis, Kidney Diseases, Cystic

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review