Matches in SemOpenAlex for { <https://semopenalex.org/work/W2096479761> ?p ?o ?g. }
Showing items 1 to 69 of
69
with 100 items per page.
- W2096479761 endingPage "655" @default.
- W2096479761 startingPage "649" @default.
- W2096479761 abstract "There is little information in the literature regarding the usefulness of ultrastructural examination of axillary skin biopsies in the evaluation of metabolic diseases. This is a retrospective clinicopathologic review of 143 patients who underwent axillary skin biopsies as part of evaluations for metabolic disease. Twenty-three (16%) had abnormalities, classified as follows: mitochondrial (n = 12), lysosomal (n = 6), increased glycogen (n = 3), nonspecific cytoplasmic inclusions (n = 2), ceroid lipofuscinosis (n = 1), and intradermal giant cells containing vacuoles and tubular inclusions (n = 1). Muscle biopsies were performed in 13 of the 23 patients; 11 showed abnormalities, including those related to mitochondria (n = 4) and other nonspecific changes (n = 7). Two patients underwent postmortem examination. Follow-up was available in 21 patients. A clinical or biochemical diagnosis was reached in 11 patients: metachromatic leukodystrophy (n = 2), electron transport chain abnormalities (n = 2), glutaric aciduria type II (n = 1), Unverricht disease (n = 1), Lennox-Gastaut syndrome (n = 1), ketotic hypoglycemia of childhood (n = 1), probable Leigh disease (n = 1), 5-methyl tetrahydrofolate homocystine methyltransferase deficiency (n = 1), and pyruvate dehydrogenase deficiency (n = 1). Of the 120 patients with negative skin biopsy results, 29 had abnormal findings on muscle (n = 27), nerve (n = 7), or brain (n = 3) biopsies. One patient had an abnormal heart biopsy result, and 3 patients underwent postmortem examinations. Follow-up was obtained in 27 of 29 patients. Diagnoses were achieved in 15 patients: electron transport chain abnormalities (n = 5), cortical dysplasia (n = 3), myoclonic epilepsy (n = 1), leukodystrophy (n = 2), Pallister-Killian mosaic syndrome (n = 1), Rett syndrome (n = 1), Landau-Kleffner syndrome (n = 1), and mitochondrial cardiomyopathy (n = 1). In conclusion, axillary skin biopsy is helpful in the evaluation of some causes of metabolic disease, but often the findings are nonspecific. A negative biopsy result does not rule out the possibility of metabolic disease, but a positive result may provide direction for further evaluation. HUM PATHOL 32:649-655. Copyright © 2001 by W.B. Saunders Company" @default.
- W2096479761 created "2016-06-24" @default.
- W2096479761 creator A5007233218 @default.
- W2096479761 creator A5032841570 @default.
- W2096479761 creator A5050814604 @default.
- W2096479761 creator A5083569309 @default.
- W2096479761 date "2001-06-01" @default.
- W2096479761 modified "2023-09-27" @default.
- W2096479761 title "Ultrastructural examination of the axillary skin biopsy in the diagnosis of metabolic diseases" @default.
- W2096479761 cites W1546992615 @default.
- W2096479761 cites W1981327400 @default.
- W2096479761 cites W2036009346 @default.
- W2096479761 cites W2042109743 @default.
- W2096479761 cites W2068691413 @default.
- W2096479761 cites W2087346067 @default.
- W2096479761 cites W2089206888 @default.
- W2096479761 cites W2276933820 @default.
- W2096479761 cites W2336578011 @default.
- W2096479761 cites W2466752458 @default.
- W2096479761 cites W4298425875 @default.
- W2096479761 doi "https://doi.org/10.1053/hupa.2001.24995" @default.
- W2096479761 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11431721" @default.
- W2096479761 hasPublicationYear "2001" @default.
- W2096479761 type Work @default.
- W2096479761 sameAs 2096479761 @default.
- W2096479761 citedByCount "14" @default.
- W2096479761 countsByYear W20964797612015 @default.
- W2096479761 countsByYear W20964797612016 @default.
- W2096479761 countsByYear W20964797612017 @default.
- W2096479761 countsByYear W20964797612019 @default.
- W2096479761 crossrefType "journal-article" @default.
- W2096479761 hasAuthorship W2096479761A5007233218 @default.
- W2096479761 hasAuthorship W2096479761A5032841570 @default.
- W2096479761 hasAuthorship W2096479761A5050814604 @default.
- W2096479761 hasAuthorship W2096479761A5083569309 @default.
- W2096479761 hasConcept C142724271 @default.
- W2096479761 hasConcept C2775934546 @default.
- W2096479761 hasConcept C2776326100 @default.
- W2096479761 hasConcept C2779999465 @default.
- W2096479761 hasConcept C2780439664 @default.
- W2096479761 hasConcept C71924100 @default.
- W2096479761 hasConceptScore W2096479761C142724271 @default.
- W2096479761 hasConceptScore W2096479761C2775934546 @default.
- W2096479761 hasConceptScore W2096479761C2776326100 @default.
- W2096479761 hasConceptScore W2096479761C2779999465 @default.
- W2096479761 hasConceptScore W2096479761C2780439664 @default.
- W2096479761 hasConceptScore W2096479761C71924100 @default.
- W2096479761 hasIssue "6" @default.
- W2096479761 hasLocation W20964797611 @default.
- W2096479761 hasLocation W20964797612 @default.
- W2096479761 hasOpenAccess W2096479761 @default.
- W2096479761 hasPrimaryLocation W20964797611 @default.
- W2096479761 hasRelatedWork W1186010788 @default.
- W2096479761 hasRelatedWork W1988591658 @default.
- W2096479761 hasRelatedWork W2032691849 @default.
- W2096479761 hasRelatedWork W2078980900 @default.
- W2096479761 hasRelatedWork W2078991303 @default.
- W2096479761 hasRelatedWork W2385854363 @default.
- W2096479761 hasRelatedWork W2767432198 @default.
- W2096479761 hasRelatedWork W3165211857 @default.
- W2096479761 hasRelatedWork W4200066940 @default.
- W2096479761 hasRelatedWork W2223500884 @default.
- W2096479761 hasVolume "32" @default.
- W2096479761 isParatext "false" @default.
- W2096479761 isRetracted "false" @default.
- W2096479761 magId "2096479761" @default.
- W2096479761 workType "article" @default.