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4,620
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Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A.
Author(s):
B Göttsche
,
W Schachenmayr
,
H. Reichmann
,
A Pekrun
,
F. Lampert
,
A Borkhardt
,
U Gottschalk
,
Amanda J Kreuder
,
Mark K. Schlegel
,
R Repp
Publication date:
1996-04-25
Journal:
The New England journal of medicine
Keywords:
Adenosine Triphosphate
,
analysis
,
Base Sequence
,
Child, Preschool
,
Erythrocytes
,
enzymology
,
metabolism
,
Fructose-Bisphosphate Aldolase
,
deficiency
,
genetics
,
Hemolysis
,
Humans
,
Male
,
Microscopy, Electron
,
Molecular Sequence Data
,
Muscle Fatigue
,
Muscle Weakness
,
pathology
,
Muscle, Skeletal
,
ultrastructure
,
Point Mutation
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PubMed
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There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.
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Author and article information
Journal
DOI::
10.1056/NEJM199604253341705
PubMed ID::
8598869
ScienceOpen disciplines:
Chemistry
Keywords:
Adenosine Triphosphate
,
analysis
,
Base Sequence
,
Child, Preschool
,
Erythrocytes
,
enzymology
,
metabolism
,
Fructose-Bisphosphate Aldolase
,
deficiency
,
genetics
,
Hemolysis
,
Humans
,
Male
,
Microscopy, Electron
,
Molecular Sequence Data
,
Muscle Fatigue
,
Muscle Weakness
,
pathology
,
Muscle, Skeletal
,
ultrastructure
,
Point Mutation
Data availability:
ScienceOpen disciplines:
Chemistry
Keywords:
Adenosine Triphosphate
,
analysis
,
Base Sequence
,
Child, Preschool
,
Erythrocytes
,
enzymology
,
metabolism
,
Fructose-Bisphosphate Aldolase
,
deficiency
,
genetics
,
Hemolysis
,
Humans
,
Male
,
Microscopy, Electron
,
Molecular Sequence Data
,
Muscle Fatigue
,
Muscle Weakness
,
pathology
,
Muscle, Skeletal
,
ultrastructure
,
Point Mutation
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