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Trifunctional Protein Deficiency With Myopathy And Neuropathy
Known as:
TFP Deficiency
, Long chain 3 hydroxyacyl coA dehydrogenase deficiency
, Mitochondrial Trifunctional Protein Deficiency
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A rare, autosomal recessive inherited disorder caused by mutations in the HADHA and HADHB genes. It is characterized by the deficiency of an enzyme…
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National Institutes of Health
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Related topics
Related topics
25 relations
Autosomal recessive inheritance
Cardiomyopathy, Dilated
Conditions tested for in this newborn screening study:ID:Pt:Bld.dot:Nom
Failure to Thrive
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Broader (6)
Cardiomyopathies
Lipid Metabolism, Inborn Errors
Mitochondrial Myopathies
Mitochondrial Trifunctional Protein
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2008
2008
Measuring the Efficiency of Ariports in China with the DEA and Endogenous-Weight TFP Methods.
C. Chow
,
M. Fung
,
J. Law
,
Y. V. Hui
2008
Corpus ID: 152941753
The study of Chinese airport efficiency has been largely neglected, despite the Chinese civil aviation industry's recent…
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1999
1999
Evaluation of Productivity in Extensive Aquaculture Practices Using lnterspatial TFP Index, Sulawesi, Indonesia
F. J. M. Cordero
,
W. J. Fitzgerald
,
P. Leung
Asian Fisheries Science
1999
Corpus ID: 168084889
Various input factors contribute to the final output in extensive aquaculture systems. These include culture practices, skill…
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1998
1998
Productivity Growth During the First Industrial Revolution: Inferences from the Pattern of British External Trade
C. Harley
,
N. Crafts
1998
Corpus ID: 152457097
This paper examines British trade and growth in general equilibrium. It rejects Peter Temin's contention that the Crafts-Harley…
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1989
1989
Role of protein kinase C activators and inhibitors, calmodulin antagonists and membrane sialic acids in polyamine transport in murine leukemia cells.
N. Khan
,
V. Quemener
,
J. Moulinoux
Cellular and Molecular Biology
1989
Corpus ID: 33864168
The effects of activators and inhibitors of protein kinase C (phorbol esters and H-7) and antagonist to calmodulin (TFP) on…
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1987
1987
Role of cellular Ca++ in phosphorylation of 21 K and 19 K polypeptides in cultured thyroid cells: effects of phorbol ester, trifluoperazine, and 8-diethylamino-octyl-3,4,5-trimethoxybenzoate…
M. Ikeda
,
W. Deery
,
M. Ferdows
,
T. Nielsen
,
J. Field
Endocrinology
1987
Corpus ID: 27414060
Cultured dog thyroid cells contain 21 and 19 kilodalton (K) phosphoproteins which by several criteria have been identified as…
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1987
1987
Metabolism of dibenz[a,h]acridine by rat liver microsomes.
A. Steward
,
S. Kumar
,
H. Sikka
Carcinogenesis
1987
Corpus ID: 2893832
As part of a project to assess the effect of heterocyclic nitrogen in modifying the metabolism and mutagenicity of polycyclic…
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1985
1985
Secondary metabolites of benzo[a]pyrene: 3-hydroxy-trans-7,8-dihydro-7,8-dihydroxybenzo[a]pyrene, a biliary metabolite of 3-hydroxybenzo[a]pyrene in the rat.
O. Ribeiro
,
C. Kirkby
,
P. Hirom
,
P. Millburn
Carcinogenesis
1985
Corpus ID: 8281409
Rats administered 3-hydroxybenzo[a]pyrene (50 mg/kg, i.p.), excrete via the bile metabolites which, after treatment with beta…
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1982
1982
Participation of calmodulin in immunoglobulin capping
G. Nelson
,
M. Andrews
,
M. Karnovsky
Journal of Cell Biology
1982
Corpus ID: 1298209
When mouse B lymphocytes are incubated with antibodies against their surface immunoglobulin (Ig), patching and capping occur in a…
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1981
1981
Antipyrine metabolites in two populations.
T. Inaba
,
H. Uchino
,
D. Kadar
,
W. Kalow
Research communications in chemical pathology and…
1981
Corpus ID: 23550140
After ingestion of 1 g antipyrine by healthy subjects of either Caucasian (n = 32) or Oriental (n = 18) background, urine was…
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1970
1970
Intramolecular hydrogen bonding. Infrared and nuclear magnetic resonance study of diastereomeric episulfides
K. D. Carlson
,
D. Weisleder
,
M. E. Daxenbichler
1970
Corpus ID: 22554203
A detailed ir and nmr study has confirmed the absolute configurational assignments of diastereomeric {3hydroxy (-acetoxy…
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