Abstract
We report the premortem and postmortem morphologic and histologic features and biochemical findings of a patient with long-chain 3-hydroxyacyl- CoA dehydrogenase (L-CHAD) deficiency and compare these with those described in previously reported cases of L-CHAD deficiency. In addition to chronic nonketotic hypoglycemia, hypotonia, and liver failure, this patient had chronic hemolytic anemia and delayed central nervous system myelination. These features have not been previously documented in L-CHAD deficiency.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 730-734 |
| Number of pages | 5 |
| Journal | Archives of Pathology and Laboratory Medicine |
| Volume | 121 |
| Issue number | 7 |
| State | Published - 1997 |
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ASJC Scopus subject areas
- Pathology and Forensic Medicine
- Medical Laboratory Technology
Cite this
Clinical, biochemical, and morphologic investigations of a case of long- chain 3-hydroxyacyi-CoA dehydrogenase deficiency. / Amirkhan, Robin H.; Timmons, Charles F.; Brown, Kendall O.; Weinberger, Michael J.; Bennett, Michael J.
In: Archives of Pathology and Laboratory Medicine, Vol. 121, No. 7, 1997, p. 730-734.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Clinical, biochemical, and morphologic investigations of a case of long- chain 3-hydroxyacyi-CoA dehydrogenase deficiency
AU - Amirkhan, Robin H.
AU - Timmons, Charles F.
AU - Brown, Kendall O.
AU - Weinberger, Michael J.
AU - Bennett, Michael J.
PY - 1997
Y1 - 1997
N2 - We report the premortem and postmortem morphologic and histologic features and biochemical findings of a patient with long-chain 3-hydroxyacyl- CoA dehydrogenase (L-CHAD) deficiency and compare these with those described in previously reported cases of L-CHAD deficiency. In addition to chronic nonketotic hypoglycemia, hypotonia, and liver failure, this patient had chronic hemolytic anemia and delayed central nervous system myelination. These features have not been previously documented in L-CHAD deficiency.
AB - We report the premortem and postmortem morphologic and histologic features and biochemical findings of a patient with long-chain 3-hydroxyacyl- CoA dehydrogenase (L-CHAD) deficiency and compare these with those described in previously reported cases of L-CHAD deficiency. In addition to chronic nonketotic hypoglycemia, hypotonia, and liver failure, this patient had chronic hemolytic anemia and delayed central nervous system myelination. These features have not been previously documented in L-CHAD deficiency.
UR - http://www.scopus.com/inward/record.url?scp=0030789710&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030789710&partnerID=8YFLogxK
M3 - Article
VL - 121
SP - 730
EP - 734
JO - Archives of Pathology and Laboratory Medicine
JF - Archives of Pathology and Laboratory Medicine
SN - 0003-9985
IS - 7
ER -