Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A
about
Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme functionTarui disease and distal glycogenoses: clinical and genetic updateGlycogen metabolism in humansStructure of a rabbit muscle fructose-1,6-bisphosphate aldolase A dimer variantTwo-pore channels at the intersection of endolysosomal membrane trafficNovel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscleTyrosine nitration impairs mammalian aldolase A activity.A novel anti-aldolase C antibody specifically interacts with residues 85-102 of the proteinProgress and problems in muscle glycogenosesMyopathic causes of exercise intolerance with rhabdomyolysis.Muscle glycogenoses.A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.Oxidative proteome alterations during skeletal muscle ageingRhabdomyolysis: a genetic perspective.Transcription factor TBX1 overexpression induces downregulation of proteins involved in retinoic acid metabolism: a comparative proteomic analysis.Neuromuscular disorders of glycogen metabolism.Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis.Dysregulation of calcium homeostasis in muscular dystrophies.Acute rhabdomyolysis and inflammation.Metabolic Myoglobinuria.The investigation and management of metabolic myopathies.Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes.Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion.To fire the train: a second malignant-hyperthermia gene.Thermodynamic analysis of the dissociation of the aldolase tetramer substituted at one or both of the subunit interfaces.
P2860
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P2860
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A
description
1996 nî lūn-bûn
@nan
1996 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A
@ast
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A
@en
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A
@nl
type
label
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A
@ast
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A
@en
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A
@nl
prefLabel
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A
@ast
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A
@en
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A
@nl
P2093
P1476
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A
@en
P2093
A Borkhardt
B Göttsche
H Reichmann
K Schlegel
U Gottschalk
W Schachenmayr
P304
P356
10.1056/NEJM199604253341705
P407
P577
1996-04-25T00:00:00Z