(Q49321379)

20 February 2018

review article

1 reference

title

Molecular basis of hereditary disease. (English)

1 reference

20 February 2018

author name string

Harris H

series ordinal

1

1 reference

20 February 2018

language of work or name

English

0 references

publication date

1 April 1968

1 reference

20 February 2018

published in

The BMJ

1 reference

20 February 2018

volume

2

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20 February 2018

issue

5598

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20 February 2018

page(s)

135-141

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20 February 2018

PYRIMIDINE METABOLISM IN MAN. IV. THE ENZYMATIC DEFECT OF OROTIC ACIDURIA.

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

Argininosuccinate synthetase activity and citrulline metabolism in cells cultured from a citrullinemic subject

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

DIFFERENT ENZYMIC EXPRESSIONS OF MUTANTS OF HUMAN GLUCOSE-6-PHOSPHATE DEHYDROGENASE

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

GLYCOGEN SYNTHESIS IN MUSCLE LACKING PHOSPHORYLASE.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

HEMOGLOBIN HOPE: A BETA CHAIN VARIANT

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

HEREDITARY HEMOLYTIC ANEMIA WITH TRIOSEPHOSPHATE ISOMERASE DEFICIENCY

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

TURNER'S SYNDROME, TWINNING, AND AN UNUSUAL VARIANT OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

CONGENITAL PANCREATIC LIPASE DEFICIENCY.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

GENETICAL STUDIES ON HUMAN RED CELL ACID PHOSPHATASE

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

HOMOCYSTINURIA: AN ENZYMATIC DEFECT.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

Sex-linked electrophoretic difference in glucose-6-phosphate dehydrogenase

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

Electrophoretic heterogeneity of glucose-6-phosphate dehydrogenase and its relationship to enzyme deficiency in man.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

Chemical studies of several varieties of Hb M.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

Abnormal human haemoglobins. III. The chemical difference between normal and sickle cell haemoglobins

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

The nature of the defect in tyrosine metabolism in alcaptonuria

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

Enzymatic deficiency in primaquine-sensitive erythrocytes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

The metabolism of iodotyrosines. III. Di-iodotyrosine deshalogenating activity of human thyroid tissue

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

Congenital galactosemia, a single enzymatic block in galactose metabolism

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

Genetical Implications of the Structure of Deoxyribonucleic Acid

22 May 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

22 May 2018

12 December 2020

Sulfite Oxidase Deficiency in Man: Demonstration of the Enzymatic Defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

Negro variant of glucose-6-phosphate dehydrogenase deficiency (A-) in man.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

Further data on the incidence and genetics of the serum cholinesterase phenotype C5+

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

Hemoglobin Jenkins or hemoglobin-N-Baltimore or alpha-2-beta-2 95Glu

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

Evidence for four types of erythrocyte glucose-6-phosphate dehydrogenase from G-6-PD-deficient human subjects

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

The Croonian lecture, 1966. The genetic code

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

Different properties of glucose 6-phosphate dehydrogenase from human erythrocytes with normal and abnormal enzyme levels.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

A specific enzyme defect in gout associated with overproduction of uric acid

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

The enzymatic deficiency in tyrosinemia.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

A Chinese variant of glucose-6-phosphate dehydrogenase.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

Haemoglobin variant in a Bushman: haemoglobin D-beta-Bushman-alpha-beta-22-16-gly-arg.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

Abnormal haemoglobins in Iran. Observation of a new variant--haemoglobin J Iran (alpha-2-beta-2 77 His--Asp).

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

A NEW HAEMOGLOBIN, D IBADAN (BETA-87 THREONINE -- LYSINE), PRODUCING NO SICKLE-CELL HAEMOGLOBIN D DISEASE WITH HAEMOGLOBIN S.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

A NEW HAEMOGLOBIN IN A THAI FAMILY. A CASE OF HAEMOGLOBIN SIRIRAJ-BETA THALASSAEMIA.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

TRYPSINOGEN DEFICIENCY DISEASE.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

PHOSPHOGLUCOMUTASE POLYMORPHISM IN MAN.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

VARIATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE IN DIFFERENT POPULATIONS.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

Phenylpyruvic oligophrenia deficiency of phenylalanine-oxidizing system.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1989184

[The enzymatic defect of benign fructosuria.]

14 August 2018

1 reference

12 December 2020

Phosphorylase Kinase of the Liver: Deficiency in a Girl with Increased Hepatic Glycogen

1 reference

12 December 2020

THE DIAGNOSIS OF MAPLE SYRUP URINE DISEASE (BRANCHED- CHAIN KETOACIDURIA) BY THE IN VITRO STUDY OF THE PERIPHERAL LEUKOCYTE

1 reference

12 December 2020

ABNORMAL HUMAN HEMOGLOBINS. IX. CHEMISTRY OF HEMOGLOBIN J-BALTIMORE

1 reference

12 December 2020

The action of normal and atypical cholinesterase of human serum upon a series of esters of choline

1 reference

12 December 2020

Cystathioninuria: nature of the defect

1 reference

12 December 2020

Chemical Heterogeneity of Hæmoglobin O

1 reference

12 December 2020

Enzymatic Defect in Fabry's Disease

1 reference

12 December 2020

The enzymic defect of hereditary methemoglobinemia: diaphorase

1 reference

12 December 2020

The enzymatic defect in histidinemia

1 reference

12 December 2020

On distribution and inheritance of atypical forms of human serum cholinesterase, as indicated by dibucaine numbers

1 reference

12 December 2020

1 reference

12 December 2020

HEMOGLOBIN HIKARI (ALPHA-2A-BETA-2-61ASPNH2): A FAST-MOVING HEMOGLOBIN FOUND IN TWO UNRELATED JAPANESE FAMILIES

1 reference

12 December 2020

Erythrocyte Phosphogluconate Dehydrogenase Polymorphism

1 reference

12 December 2020

Haemoglobin Köln (β–98 Valine → Methionine): An Unstable Protein Causing Inclusion-Body Anaemia

1 reference

12 December 2020

Hemoglobin G Saskatoon: beta-22Glu--Ala

1 reference

12 December 2020

A NEW GLUCOSE-6-PHOSPHATE DEHYDROGENASE MUTANT (TEL-HASHOMER MUTANT)

1 reference

12 December 2020

1 reference

12 December 2020

ERYTHROCYTE GLUCOSE-6-PHOSPHATE DEHYDROGENASE IN CAUCASIANS: NEW INHERITED VARIANT

1 reference

12 December 2020

Allelomorphism and the Chemical Differences of the Human Hæmoglobins A, S and C

1 reference

12 December 2020

Rickets, deficiency of alkaline phosphatase activity and premature loss of teeth in childhood

1 reference

12 December 2020

Athens variant of glucose-6-phosphate dehydrogenase

1 reference

12 December 2020

Urea cycle enzymes in the liver of a patient with argininosuccinic aciduria

1 reference

12 December 2020

"CHICAGO I" VARIANT OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE IN CONGENITAL HEMOLYTIC DISEASE

1 reference

12 December 2020

[Anomaly of hepatic aldolase in intolerance to fructose.]

1 reference

12 December 2020

A new hemoglobin variant resembling hemoglobin E. Hemoglobin E Saskatoon: beta-22 Glu replaced by Lys

1 reference

12 December 2020

Genetically Determined Variation of Adenylate Kinase in Man

1 reference

12 December 2020

Haemoglobin Genova: β28 (B10) Leucine→Proline

1 reference

12 December 2020

Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea

1 reference

12 December 2020

OBSERVATIONS IN TWO SWISS FAMILIES WITH ACATALASIA. II

1 reference

12 December 2020

Seattle variant of glucose-6-phosphate dehydrogenase

1 reference

12 December 2020

Haemoglobin Zurich: alpha 2A beta 2-63 Arg

1 reference

12 December 2020

Pyruvate kinase (PK) deficiency hereditary nonspherocytic hemolytic anemia

1 reference

12 December 2020

1 reference

12 December 2020

Genetical studies on a new variant of serum cholinesterase detected by electrophoresis

1 reference

12 December 2020

Haemoglobin Hammersmith (β 42 (CD1) Phe→Ser)

1 reference

12 December 2020

Quantitative Differences and Gene Dosage in the Human Red Cell Acid Phosphatase Polymorphism

1 reference

12 December 2020

Alkaline Phosphatase in Human Sera and Placentae: Starch gel electrophoresis reveals many phosphatase components including a polymorphism in placentae

1 reference

12 December 2020

Enzyme Defect in a Case of Xanthinuria

1 reference

12 December 2020

Haemoglobin Sydney: β67 (EII) Valine→ Alanine : an Emerging Pattern of Unstable Haemoglobins

1 reference

12 December 2020

A method for the detection of atypical forms of human serum cholinesterase; determination of dibucaine numbers

1 reference

12 December 2020

A Chemical Abnormality in Hæmoglobin G

1 reference

12 December 2020

State of Hæmoglobin in Sickle-Cell Anæmia

1 reference

12 December 2020

Abnormal human haemoglobins. VII. Chemical studies on haemoglobin D

1 reference

12 December 2020

Progressive oral gangrene probably due to lack of catalase in the blood (acatalasaemia); report of nine cases

1 reference

12 December 2020

Red Cell Acid Phosphatase Variants: A New Human Polymorphism

1 reference

12 December 2020

Enzyme Polymorphisms in Man

1 reference

12 December 2020

Abnormal Human Hæmoglobins: Human Hæmoglobin E: the Chemical Effect of Gene Mutation

1 reference

12 December 2020

The familial incidence of low pseudocholinesterase level

1 reference

12 December 2020

Genetics of the Alkaline Phosphatase Polymorphism of the Human Placenta

1 reference

12 December 2020

Identifiers

DOI

10.1136/BMJ.2.5598.135

1 reference

20 February 2018

PMC publication ID

1989184

1 reference

20 February 2018

PubMed publication ID

4868662

1 reference

20 February 2018