(Q34344908)

1 August 2017

title

Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms (English)

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1 August 2017

Hollán S

1

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1 August 2017

Fujii H

2

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1 August 2017

Hirono A

3

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1 August 2017

Hirono K

4

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1 August 2017

Karro H

5

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1 August 2017

Miwa S

6

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1 August 2017

Harsányi V

7

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1 August 2017

Gyódi E

8

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1 August 2017

Inselt-Kovács M

9

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1 August 2017

publication date

1 November 1993

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1 August 2017

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1 August 2017

volume

92

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1 August 2017

issue

5

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1 August 2017

page(s)

486-490

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Human triosephosphate isomerase cDNA and protein structure. Studies of triosephosphate isomerase deficiency in man

1 August 2017

cites work

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12 December 2020

Prenatal diagnosis of a red-cell enzymopathy: triose phosphate isomerase deficiency

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12 December 2020

HEREDITARY HEMOLYTIC ANEMIA WITH TRIOSEPHOSPHATE ISOMERASE DEFICIENCY

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12 December 2020

Synteny relationships of four human genes: mannose phosphate isomerase to pyruvate kinase-3 and triose phophate isomerase to lactate dehydrogenase-B

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12 December 2020

Proton diffusion in the active site of triosephosphate isomerase

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12 December 2020

Myopathy with altered mitochondria due to a triosephosphate isomerase (TPI) deficiency.

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12 December 2020

Proceedings: Evidence for synteny between the human loci for triose phosphate isomerase, lactate dehydrogenase-B, and peptidase-B and the regional mapping of these loci on chromosome 12

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12 December 2020

Triosephosphate isomerase deficiency: haemolytic anaemia, myopathy with altered mitochondria and mental retardation due to a new variant with accelerated enzyme catabolism and diminished specific activity.

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12 December 2020

Neurological findings in triosephosphate isomerase deficiency

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12 December 2020

The frequency among Japanese of heterozygotes for deficiency variants of 11 enzymes

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12 December 2020

Neutral imidazole is the electrophile in the reaction catalyzed by triosephosphate isomerase: structural origins and catalytic implications

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12 December 2020

Segmental motion in catalysis: investigation of a hydrogen bond critical for loop closure in the reaction of triosephosphate isomerase

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12 December 2020

Enzyme catalysis: not different, just better

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12 December 2020

Segmental movement: definition of the structural requirements for loop closure in catalysis by triosephosphate isomerase

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12 December 2020

Elevated frequency of carriers for triosephosphate isomerase deficiency in newborn infants

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12 December 2020

Hereditary deficiency of triosephosphate isomerase in four unrelated families

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12 December 2020

Triosephosphate isomerase deficiency. A case report with neuropathological findings.

1 reference

12 December 2020

Anatomy of a conformational change: hinged "lid" motion of the triosephosphate isomerase loop.

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12 December 2020

Congenital hemolytic anemia due to triosephosphate isomerase deficiency

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12 December 2020

Triosephosphate isomerase deficiency with hemolytic anemia and severe neuromuscular disease: familial and biochemical studies of a case found in Spain

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12 December 2020

Triose phosphate isomerase deficiency: prenatal diagnosis.

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12 December 2020

Studies on erythrocyte glycolysis. I. Determination of the glycolytic intermediates in human erythrocytes

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12 December 2020

Triose phosphate isomerase deficiency

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12 December 2020

Characterization of the functional gene and several processed pseudogenes in the human triosephosphate isomerase gene family

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12 December 2020

Characterization of triosephosphate isomerase mutants with reduced enzyme activity in Mus musculus

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12 December 2020

Stabilization of a reaction intermediate as a catalytic device: definition of the functional role of the flexible loop in triosephosphate isomerase.

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12 December 2020

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12 December 2020

Premature translation termination mediates triosephosphate isomerase mRNA degradation

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12 December 2020

Selectivity of proteases as a basis for tissue distribution of enzymes in hereditary deficiencies

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12 December 2020

How can a catalytic lesion be offset? The energetics of two pseudorevertant triosephosphate isomerases

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12 December 2020

Hereditary triose phosphate isomerase deficiency: seven new homozygous cases

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12 December 2020

1,3-Diphosphoglycerate in phosphoglycerate kinase deficiency

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12 December 2020

Changes in the cholinergic system of lymphocytes due to mitogenic stimulation

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12 December 2020

International Committee for Standardization in Haematology: recommended methods for red-cell enzyme analysis.

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12 December 2020

Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme

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12 December 2020

Isolation of B and T Lymphocytes by Nylon Fiber Columns

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12 December 2020

Electrophilic catalysis in triosephosphate isomerase: the role of histidine-95

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12 December 2020

Stepwise improvements in catalytic effectiveness: independence and interdependence in combinations of point mutations of a sluggish triosephosphate isomerase.

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12 December 2020

Crystallographic analysis of the complex between triosephosphate isomerase and 2-phosphoglycolate at 2.5-A resolution: implications for catalysis

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12 December 2020

Triosephosphate isomerase deficiency: 2 new cases

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12 December 2020

The first case of a complete deficiency of diphosphoglycerate mutase in human erythrocytes

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12 December 2020

Genomic imprinting: review and relevance to human diseases.

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12 December 2020

Identifiers

DOI

10.1007/BF00216456

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Dimensions Publication ID

1 August 2017

1027188942

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