(Q36054756)

11 August 2017

1 reference

title

Advances in hereditary red cell enzyme anomalies (English)

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11 August 2017

1 reference

14 May 2022

author name string

A. Kahn

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A157322

14 May 2022

J. C. Kaplan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A157322

14 May 2022

J. C. Dreyfus

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A157322

14 May 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=157322

14 May 2022

publication date

1 January 1979

1 reference

full work available at URL

11 August 2017

http://link.springer.com/content/pdf/10.1007/BF00295584.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00295584/fulltext.html

14 May 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF00295584

14 May 2022

1 reference

14 May 2022

1 reference

11 August 2017

volume

50

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11 August 2017

issue

1

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11 August 2017

page(s)

1-27

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Purification and partial characterization of different forms of phosphofructokinase in man

11 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FBF00295584

The genetic system of the L-type pyruvate kinase forms in man Subunit structure, interrelation and kinetic characteristics of the pyruvate kinase enzymes from erythrocytes and liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00295584

Soluble and microsomal forms of NADH-cytochrome b5 reductase from human placenta Similarity with NADH-methemoglobin reductase from human erythrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00295584

The gamma-glutamyl cycle. Diseases associated with specific enzyme deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00295584

Hereditary Glucosephosphate Isomerase Deficiency: A Review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00295584

Multiple enzyme purifications from muscle extracts by using affinity-elution-chromatographic procedures

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00295584

Muscle Phosphofructokinase Deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00295584

Lead poisoning: association with hemolytic anemia, basophilic stippling, erythrocyte pyrimidine 5'-nucleotidase deficiency, and intraerythrocytic accumulation of pyrimidines

21 January 2018

1 reference

12 December 2020

Human erythrocyte pyruvate kinase deficiency: The use of a kinetic study of mutant enzymes for the detection of heterozygotes

1 reference

12 December 2020

Triose phosphate isomerase deficiency

1 reference

12 December 2020

Characterization of pyruvate kinase from the liver of a patient with aberrant erythrocyte pyruvate kinase, PK Nagasaki

1 reference

12 December 2020

Nonspherocytic Haemolytic Anaemia with Increased Red Cell Adenine Nucleotides, Glutathione and Basophilic Stippling and Ribosephosphate Pyrophosphokinase (RPK) Deficiency: Studies on Two New Kindreds

1 reference

12 December 2020

A point mutation increasing the stability of human phosphoglucose isomerase

1 reference

12 December 2020

Studies on methemoglobin reductase. Immunochemical similarity of soluble methemoglobin reductase and cytochrome b5 of human erythrocytes with NADH-cytochrome b5 reductase and cytochrome b5 of rat liver microsomes

1 reference

12 December 2020

Hexokinase deficiency in blood cells in a group of kin with familial panmyelopathy (Fanconi type)

1 reference

12 December 2020

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

1 reference

12 December 2020

Electrophoretic and kinetic studies of human erythrocytes deficient in pyrimidine 5'-nucleotidase

1 reference

12 December 2020

[Hexokinase deficiency in hemolytic anemia]

1 reference

12 December 2020

Molecular mechanism of erythrocyte pyruvate kinase deficiency

1 reference

12 December 2020

Evidence for a postsynthetic proteolytic transformation of human erythrocyte pyruvate kinase into L-type enzyme

1 reference

12 December 2020

Hereditary methemoglobinemia with mental retardation and neurologic disorders. Clinical and biochemical study of a case

1 reference

12 December 2020

STUDIES IN CONGENITAL NON-SPHEROCYTIC HAEMOLYTIC ANAEMIAS WITH SPECIFIC ENZYME DEFECTS

1 reference

12 December 2020

Congenital Methemoglobin- Reductase (Cytochrome b<sub>5</sub> Reductase) Deficiency Associated with Mental Retardation in a Spanish Girl

1 reference

12 December 2020

Congenital nonspherocytic hemolytic anemia, associated with glutathione deficiency of the erythrocytes. Hematologic, biochemical and genetic studies

1 reference

12 December 2020

Human leukocyte glucose-phosphate-isomerase purification by affinity elution and immunological study

1 reference

12 December 2020

Diphosphoglycerate mutase and 2,3-diphosphoglycerate phosphatase activities of red cells: comparative electrophoretic study.

1 reference

12 December 2020

[Erythrocytic pyruvate kinase. II. Enzymatic heterogeneity of deficiencies. Studies concerning 28 cases with congenital hemolytic anemia]

1 reference

12 December 2020

Hereditary hemolytic anemia with hexokinase deficiency. Role of hexokinase in erythrocyte aging

1 reference

12 December 2020

Studies on human erythrocyte nucleotide metabolism. II. Nonspherocytic hemolytic anemia, high red cell ATP, and ribosephosphate pyrophosphokinase (RPK, E.C.2.7.6.1) deficiency

1 reference

12 December 2020

Hereditary hemolytic anemia with human erythrocyte pyrimidine 5'-nucleotidase deficiency

1 reference

12 December 2020

Evidence against the occurrence of tissue-specific variants and isoenzymes of phosphoglucose isomerase

1 reference

12 December 2020

Phosphoglycerate kinase: an X-linked polymorphism in man

1 reference

12 December 2020

Four New Pyruvate Kinase (PK) Variants and a Classical PK Deficiency

1 reference

12 December 2020

Effects of sulphydryl compounds on abnormal red cell pyruvate kinase

1 reference

12 December 2020

Simultaneous inheritance of mutant isoenzymes of erythrocyte pyruvate kinase associated with chronic haemolytic anaemia

1 reference

12 December 2020

Liver pyruvate kinase (PK) isozymes in a PK-deficient patient

1 reference

12 December 2020

Glucose phosphate isomerase type Recklinghausen: a new enzyme variant with haemolytic anaemia (author's transl)

1 reference

12 December 2020

Erythrocyte phosphofructokinase deficiency associated with an unstable variant of muscle phosphofructokinase

1 reference

12 December 2020

Biochemical heterogeneity in glutathione synthetase deficiency

1 reference

12 December 2020

[Familial diphosphoglycerate mutase deficiency: hematological and biochemical study]

1 reference

12 December 2020

The Diurnal Urinary Excretion of Oxalate and the Effect of Pyridoxine and Ascorbate on Oxalate Excretion

1 reference

12 December 2020

Glucose phosphate isomerase deficiency with hereditary hemolytic anemia in a Spanish family: Clinical and familial studies

1 reference

12 December 2020

Hemolytic anemia and hexokinase deficiency associated with malformations

1 reference

12 December 2020

Hereditary absence of reduced glutathione in the erythrocytes - a new clinical and biochemical entity? (Preliminary communication)

1 reference

12 December 2020

[Erythrocyte and leucocyte 3-phosphoglycerate kinase deficiency. Studies of properties of the enzyme, phagocytic activity of the polymorphonuclear leucoytes and a review of the literature]

1 reference

12 December 2020

Red cell phosphoglycerate kinase deficiency. A new cause of non-spherocytic hemolytic anemia

1 reference

12 December 2020

Unique phenotypic expression of glucosephosphate isomerase deficiency

1 reference

12 December 2020

Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency--a new enzyme defect of human erythrocytes

1 reference

12 December 2020

Clinical heterogeneity of erythrocyte pyruvate kinase deficiency. Evidence of an impaired utilization of ATP in a clinically severe form

1 reference

12 December 2020

Studies on pyruvate kinase (PK) deficiency. II. Electrophoretic, kinetic and immunological studies on pyruvate kinase of erythrocytes and other tissues.

1 reference

12 December 2020

Chromosome assignments in man of the genes for two hexosephosphate isomerases

1 reference

12 December 2020

Congenital nonspherocytic hemolytic anemia associated with an unusual erythrocyte hexokinase abnormality

1 reference

12 December 2020

Red-cell pyrimidine 5'-nucleotidase and lead poisoning

1 reference

12 December 2020

A specific erythrocyte glycolytic enzyme defect (pyruvate kinase) in three subjects with congenital non-spherocytic hemolytic anemia

1 reference

12 December 2020

Congenital non-spherocytic hemolytic anemia by 2,3-diphosphoglycerate mutase deficiency of the erythrocytes in early infancy

1 reference

12 December 2020

Pyroglutamic aciduria--a new inborn error of metabolism.

1 reference

12 December 2020

Study of a kindred with partial deficiency of red cell 2,3-diphosphoglycerate mutase (2,3-DPGM) and compensated hemolysis

1 reference

12 December 2020

Nonidentical subunits of human erythrocyte phosphofructokinase

1 reference

12 December 2020

Human erythrocyte phosphoglycerate kinase deficiency: presence in a deficient patient of a stable variant with lowered catalytic activity

1 reference

12 December 2020

Enzymatic deficiency in primaquine-sensitive erythrocytes

1 reference

12 December 2020

Isolation of phosphoglycerate kinases by affinity chromatography

1 reference

12 December 2020

Effects of low-level lead exposure on pyrimidine 5'-nucleotidase and other erythrocyte enzymes. Possible role of pyrimidine 5'-nucleotidase in the pathogenesis of lead-induced anemia

1 reference

12 December 2020

[Concerning tissue-specific isoenzymes of glucosephosphate isomerase in man (author's transl)]

1 reference

12 December 2020

Therapy of recessive congenital methaemoglobinaemia by oral riboflavine

1 reference

12 December 2020

Hemolytic anemia with impaired hexokinase activity

1 reference

12 December 2020

Pyruvate kinase isozymes in man. I. M type isozymes in adult and foetal tissues, electrofocusing and immunological studies

1 reference

12 December 2020

Studies on structure of human erythrocyte phosphofructokinase

1 reference

12 December 2020

Glucosephosphate-Isomerase (GPI) Deficiency: GPI Elyria

1 reference

12 December 2020

Evidence for three enzymatic activities in one electrophoretic band of 3-phosphoglycerate mutase from red cells

1 reference

12 December 2020

Congenital Non-spherocytic Haemolytic Anaemia Variants with Primary and Secondary Pyruvate Kinase Deficiency II. ENZYMATIC STUDIES

1 reference

12 December 2020

Hereditary erythrocyte pyruvate kinase deficiency: molecular and functional studies of four mutant PK variants detected in Spain

1 reference

12 December 2020

Hereditary hemolytic anemia with erythrocyte phosphofructokinase deficiency: studies of some properties of erythrocyte and muscle enzyme

1 reference

12 December 2020

Membrane-localized pyruvate kinase of red blood cells in hemolytic anemia associated with pyruvate kinase deficiency

1 reference

12 December 2020

Hereditary pyruvate kinase deficiency: role of the abnormal enzyme in red cell pathophysiology

1 reference

12 December 2020

HEREDITARY HEMOLYTIC ANEMIA WITH TRIOSEPHOSPHATE ISOMERASE DEFICIENCY

1 reference

12 December 2020

A new isozyme of triose phosphate isomerase specific to hominoids.

1 reference

12 December 2020

Selective reticulocyte destruction in erythrocyte pyruvate kinase deficiency

1 reference

12 December 2020

Erythrocyte pyruvate kinase deficiency in non-spherocytic hemolytic anemia: a system of multiple genetic markers?

1 reference

12 December 2020

On the molecular basis of pyruvate kinase deficiency. I. Primary defect or conseqence of increased glutathione disulfide concentration

1 reference

12 December 2020

[Glutathione synthesis during congenital hemolytic anemia with reduced glutathione deficiency. Congenital erythrocytic glutathione-synthetase deficiency?]

1 reference

12 December 2020

Familial diphosphoglyceratemutase deficiency. Influence on the oxygen affinity curves of hemoglobin

1 reference

12 December 2020

A new variant of glucosephosphate isomerase deficiency (GPI-Utrecht)

1 reference

12 December 2020

Generalised deficiency of cytochrome b5 reductase in congenital methaemoglobinaemia with mental retardation

1 reference

12 December 2020

'GPI Roma', a new glucose phosphate isomerase deficient variant: in vivo occurrence of postsynthetic modifications of the mutant enzyme

1 reference

12 December 2020

A spanish family with erythrocyte pyruvate kinase deficiency: Contribution of various immunologic methods in the study of the mutant enzyme

1 reference

12 December 2020

Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity

1 reference

12 December 2020

Hereditary hemolytic anemia with increased red cell adenosine deaminase (45- to 70-fold) and decreased adenosine triphosphate

1 reference

12 December 2020

Chronic haemolytic anaemia in two patients heterozygous for erythrocyte pyruvate kinase deficiency. Electrofocusing and immunological studies of erythrocyte and liver pyruvate kinase

1 reference

12 December 2020

Glucose-phosphate isomerase deficiency due to a new variant (GP I barcelona) and to a silent gene: Biochemical, immunological and genetic studies

1 reference

12 December 2020

Letter: Red-cell phosphofructokinase deficiency

1 reference

12 December 2020

Lymphocyte Ecto-5′-Nucleotidase Deficiency in Agammaglobulinemia

1 reference

12 December 2020

Immunological similarity between NADH-cytochrome b5 reductase of erythrocytes and liver microsomes

1 reference

12 December 2020

Linkage Analysis in Man by Somatic Cell Genetics

1 reference

12 December 2020

Presence of red cell type NADH-methemoglobin reductase (NADH-diaphorase) in human non erythroid cells.

1 reference

12 December 2020

Hereditary persistence of fetal erythrocyte pyruvate kinase in the Basenji dog

1 reference

12 December 2020

A unique electrophoretic pattern of triosephosphate isomerase in human cultured fibroblasts

1 reference

12 December 2020

A requirement for cytochrome b 5 in microsomal stearyl coenzyme A desaturation

1 reference

12 December 2020

Glucosephosphate isomerase deficiency: evidence for in vivo instability of an enzyme variant with hemolysis

1 reference

12 December 2020

Red cell diphosphoglycerate mutase. Immunochemical studies in vertebrate red cells, including a human variant lacking 2,3-DPG

1 reference

12 December 2020

Inherited variations in human phosphohexose isomerase

1 reference

12 December 2020

Human granulocyte phosphoglycerate kinase. Purification by double affinity elution and immunological study

1 reference

12 December 2020

Pyruvate kinase-catalyzed ATP-formation in human red blood cell membranes

1 reference

12 December 2020

Molecular and functional anomalies in two new mutant glucose-phosphate-isomerase variants with enzyme deficiency and chronic hemolysis

1 reference

12 December 2020

Genetic and non-genetic variation of triose phosphate isomerase isozymes in human tissues

1 reference

12 December 2020

Congenital nonspherocytic hemolytic anemia with an unstable hexokinase variant

1 reference

12 December 2020

Catalysis of methaemoglobin reduction by erythrocyte cytochrome B5 and cytochrome B5 reductase.

1 reference

12 December 2020

Hereditary nonspherocytic hemolysis with erythrocyte phosphofructokinase deficiency

1 reference

12 December 2020

Assignment of NADH-cytochrome b5 reductase (DIA1 locus) to human chromosome 22

1 reference

12 December 2020

Glucosephosphate isomerase deficiency in a Dutch family

1 reference

12 December 2020

[CONGENITAL 2,3-DIPHOSPHOGLYCEROMUTASE DEFICIENCY.]

1 reference

12 December 2020

Metabolic regulation in enzyme-deficient red cells

1 reference

12 December 2020

Enzymatic basis for the coexistence of myopathy and hemolytic disease in inherited muscle phosphofructokinase deficiency

1 reference

12 December 2020

Human phosphoglycerate kinase. II. Structure of a variant enzyme

1 reference

12 December 2020

The composition of the rabbit muscle triosephosphate isomerase isozymes of two different subunits

1 reference

12 December 2020

NADPH-flavin reductase in human erythrocytes and the reduction of methemoglobin through flavin by the enzyme

1 reference

12 December 2020

The enzymic defect of hereditary methemoglobinemia: diaphorase

1 reference

12 December 2020

Studies on human triosephosphate isomerase. II. Nature of the electrophoretic multiplicity in erythrocytes

1 reference

12 December 2020

Glutathione, metabolism and function via the gamma-glutamyl cycle

1 reference

12 December 2020

A new type of phosphofructokinase deficiency hereditary nonspherocytic hemolytic anemia.

1 reference

12 December 2020

Study of NADH-diaphorase activity of leukocytes in congenital recessive methemoglobinemia

1 reference

12 December 2020

Phosphofructokinase (PFK) isozymes in man. I. Studies of adult human tissues

1 reference

12 December 2020

Significance of the electrophoretic modifications of defective pyruvate kinase variants. Study of six new observations

1 reference

12 December 2020

Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. A probable X-chromosome-linked syndrome

1 reference

12 December 2020

[The enzyme defect in recessive congenital methemoglobinemia with encephalopathy. A new defective variant of NADH-diaphorase (Beni-Messous variant)]

1 reference

12 December 2020

Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease

1 reference

12 December 2020

Molecular mechanism of glucose-6-phosphate dehydrogenase deficiency

1 reference

12 December 2020

Atypical pyruvate kinase in a family with spherocytic haemolytic anaemia

1 reference

12 December 2020

Excessive hepatic glycogen storage in glucosephosphate isomerase deficiency

1 reference

12 December 2020

Familial hemolytic anemia resulting from an abnormal red blood cell pyruvate kinase

1 reference

12 December 2020

Hereditary deficiency of phosphoglycerate kinase: a new variant in erythrocytes and leucocytes, not associated with haemolytic anaemia

1 reference

12 December 2020

Studies on pyruvate kinase (PK) deficiency. I. Clinical, hematological and erythrocyte enzyme studies.

1 reference

12 December 2020

PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS.

1 reference

12 December 2020

The molecular basis of muscle phosphofructokinase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Assignment of the DIA1locus to chromosome 22

1 reference

12 December 2020

Electrophoretic abnormality in triosephosphate isomerase deficiency

1 reference

12 December 2020

Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity

1 reference

12 December 2020

Human erythrocyte hexokinase deficiency. Characterization of a mutant enzyme with abnormal regulatory properties

1 reference

12 December 2020

Further evidence of molecular alteration and aberration of erythrocyte pyruvate kinase

1 reference

12 December 2020

Genetic and Molecular Mechanisms of the Congenital Defects in Glucose Phosphate Isomerase Activity: Studies of Four Families

1 reference

12 December 2020

The New England Journal of Medicine

18

18

978

M. R. Boulard

1974

1 reference

Enzymatic Deficiency in Primaquine-Sensitive Erythrocytes

14 May 2022

22

124

484

P. E. Carson

1956

1 reference

Phosphofructokinase (PFK) isozymes in man

14 May 2022

56

48

93

A. Kahn

1979

1 reference

A case of red-cell adenosine deaminase overproduction associated with hereditary hemolytic anemia found in Japan

14 May 2022

92

1 reference

14 May 2022

Identifiers

DOI

10.1007/BF00295584

1 reference

11 August 2017

1 reference