The DOI matches its Crossref record; 72 of the 72 references it cites were found in a registry or an index.
Neonatal adrenoleukodystrophy: New cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes
Abstract
Eight new cases of autopsy-confirmed or suspected neonatal adrenoleukodystrophy (NALD) are presented together with new biochemical data on very-long-chain fatty acids (VLCFA) and plasmalogens and a review of all previously published cases. The clinical, biochemical, and histopathologic abnormalities characteristic of this newly recognized form of adrenoleukodystrophy are analyzed in detail and compared to the principal characteristics of the similar disorder, the cerebrohepatorenal syndrome of Zellweger (ZS). Using strict pathologic criteria for the diagnosis of NALD, we find that, despite many clinical resemblances, NALD and the ZS are distinguishable on the basis of histology and peroxisomal biochemistry. Patients with NALD demonstrate adrenal atrophy, systemic infiltration by abnormal lipid-laden macrophages, and elevations of saturated VLCFA. In contrast, patients with ZS have chondrodysplasia, glomerulocystic disease of the kidney, central nervous system dysmyelination, and elevations of unsaturated as well as saturated VLCFA, but they lack adrenal atrophy. We conclude that NALD and the ZS probably represent at least two different genetic defects.
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“Less severe cerebral migratory abnormalities were reported in neonatal adrenoleukodystrophy [51].”
From Peroxisomes in brain development and function (2016) · cites this paper as [51]
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Metadata
- Authors
- Kelley, R. I., Datta, N. S., Dobyns, W. B., Hajra, A. K., Moser, A. B., Noetzel, M. J., Zackai, E. H., Moser, H. W., Opitz, J. M., & Reynolds, J. F.
- Affiliations
- Children's Hospital of Philadelphia (US)
- University of Michigan (US)
- Medical College of Wisconsin (US)
- St. Louis Children's Hospital (US)
- Corresponding author
- Kelley, Richard I.
- ORCID
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1986-04
- Volume
- 23
- Issue
- 4
- Pages
- 869-901
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W1985487919
- Cited by
- 219
- References
- 72
- Citations by year
- 2025: 2 · 2024: 1 · 2023: 1 · 2022: 3 · 2021: 2 · 2019: 3 · 2018: 1 · 2017: 2 · 2016: 2 · 2015: 3 · 2014: 1 · 2013: 4 · 2012: 9
- FWCI
- 20.57
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Center for Research Resources (RR 000 52)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD00502, HD-10981)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Dermatology › Genetic and rare skin diseases.
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Keywords
- neonatal adrenoleukodystrophy, Zellweger syndrome, peroxisomal disorders, very long chain fatty acids, plasmalogens, adrenal atrophy, lipid-laden macrophages, chondrodysplasia, glomerulocystic kidney disease, dysmyelination, differential diagnosis, genetic disorders
- MeSH terms
- Abnormalities, Multiple, Adrenal Gland Diseases, Adrenoleukodystrophy, Cerebral Cortex, Diffuse Cerebral Sclerosis of Schilder, Child, Child, Preschool, Diagnosis, Differential, Face, Female, Humans, Infant, Infant, Newborn, Kidney, Liver, Liver Diseases, Macrophages, Male, Microbodies, Skull, Syndrome
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