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Rhizomelic chondrodysplasia punctata, type 2
Known as:
Glyceronephosphate O-Acyltransferase Deficiency
, DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY
, Glyceronephosphate acyltransferase deficiency
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National Institutes of Health
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Related topics
Related topics
12 relations
Autosomal recessive inheritance
Byzanthine arch palate
Cataract
Contracture
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Broader (1)
Chondrodysplasia Punctata, Rhizomelic
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2015
Review
2015
Rhizomelic Chondrodysplasia Punctata: A Case Report
T. Joshi
,
Amol Joshi
,
Rakesh R. Chikhlonde
,
L. Deshmukh
2015
Corpus ID: 57988750
Rhizomelic Chondrodysplasia Punctata (RCDP), a rare autosomal recessive disorder due to defective peroxisome metabolism, is…
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2012
2012
[Chemical constituents of Ardisia punctata].
Changfu Ma
,
Ming Luo
,
Li-mei Lin
,
Chun Xing Li
,
Zhi-min Wang
,
Yiyu Cheng
Zhongguo Zhong yao za zhi = Zhongguo zhongyao…
2012
Corpus ID: 19720172
OBJECTIVE To study chemical constituents of Ardisia punctata,in order to find pioneering compounds. METHOD 95% ethanol extracts…
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2011
2011
Polymorphism in four tortoise beetles from Queensburgh, South Africa (Chrysomelidae: Cassidinae)
H. Heron
2011
Corpus ID: 82123067
Four tortoise beetles belonging to four different genera and exhibiting balanced polymorphism were studied by means of an…
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2010
2010
Hypoglycaemic activity of extracts of the aerial parts of Satureja punctata Benth. Briq in streptozotocin-induced diabetic mice
W. Tsegaye
,
K. Urga
,
K. Asres
2010
Corpus ID: 102132536
The ethnopharmacological use of herbal remedies for the treatment of diabetes mellitus is an area of study ripe with potential as…
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2003
2003
A New Acylated Flavonoid from Anaphalis aureo-punctata
Yan
,
Qi
,
Wu
,
Shuo
,
Li
2003
Corpus ID: 82149264
A new acylated tlavonoid glycoside, 3-O-kaempferol-3-O-acetyl-6-O-(P-coumaroyl)-β-D-glucopyranoside 1 was isolated from the whole…
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1992
1992
CASE REPORT Rhizomelic chondrodysplasia punctata - A new clinical variant
R. Gray
,
A. Green
,
S. Chapman
,
C. Mckeown
,
R. Schutgens
1992
Corpus ID: 89154231
1989
1989
AN EXPERIMENTAL STUDY OF THE ANTIHSV-II ACTION OF 500 HERBAL DRUGS
郑民实
1989
Corpus ID: 68277206
Experimental assessments were made on the anti-HSV-Ⅱ action of 500 herbs by determinations of thevirus inhibition logarithm(VIL…
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1973
1973
Chondrodysplasia punctata. A report of 10 cases.
R. Mason
,
K. Kozlowski
Radiology
1973
Corpus ID: 26801366
1967
1967
Chondro-angiopathia calcarea seu punctata.
A. Robertson
Australasian Radiology
1967
Corpus ID: 37881943
1958
1958
STUDIES ON THE LEAF NODULES VII : PROPERTIES IN PURE CULTURE OF THE LEAF NODULE BACTERIUM ISOLATED FROM THE HOST-PLANT, ARDISIA CRISPA (THUNB.) A. DC. AND A. PUNCTATA LINDL
Tamotsu Yamada
1958
Corpus ID: 83118693