(Q35393479)

8 August 2017

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title

INHERITED ENZYME DEFECTS: A REVIEW. (English)

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8 August 2017

HARGREAVES T

1

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8 August 2017

language of work or name

English

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publication date

1 July 1963

1 reference

Journal of Clinical Pathology

8 August 2017

published in

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8 August 2017

volume

16

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8 August 2017

page(s)

293-318

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Hypophosphatasia; a new developmental anomaly

8 August 2017

cites work

1 reference

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A new error of tyrosine metabolism: tyrosinosis. The intermediary metabolism of tyrosine and phenylalanine

12 July 2018

1 reference

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STUDIES OF GLYCOGEN METABOLISM IN LIVER GLYCOGEN DISEASE (VON GIERKE'S DISEASE): SIX CASES WITH SIMILAR METABOLIC ABNORMALITIES AND RESPONSES TO GLUCAGON

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

The effects of adrenocorticotropic hormone and cortisone in the adrenogenital syndrome associated with congenital adrenal hyperplasia: an attempt to explain and correct its disordered hormonal pattern

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Glycogen storage disease of the heart. II. Critical review of the literature.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Argininosuccinic Aciduria: An Inborn Error of Amino Acid Metabolism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Glucoglycinuria, a new familial syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Accelerated turnover of phosphoribosylpyrophosphate, a purine nucleotide precursor, in certain gouty subjects

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

12 July 2018

A Case of Histidinaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Renal clearances of amino acids in normal adults and in patients with aminoaciduria

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Studies in maple syrup urine disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Defective lactose absorption causing malnutrition in infancy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Refractory megaloblastic anemia associated with excretion of orotic acid

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

In vitro hydroxylation of steroids by whole adrenal homogenates of beef, normal man, and patients with the adrenogenital syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

The nature of the defect in tyrosine metabolism in alcaptonuria

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Some investigations on the metabolism of phenylalanine and tyrosine in children with vitamin C deficiency

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Enzymatic deficiency in primaquine-sensitive erythrocytes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Congenital galactosemia, a single enzymatic block in galactose metabolism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Some disturbances of erythrocyte metabolism in galactosaemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Familial cirrhosis of the liver with storage of abnormal glycogen

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Chronic idiopathic jaundice with unidentified pigment in liver cells; a new clinicopathologic entity with a report of 12 cases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Toxicity of primaquine in Negroes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Familial Hyperprolinemia, Cerebral Dysfunction and Renal Anomalies Occurring in a Family with Hereditary Nephropathy and Deafness

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

A new finding in maple-syrup-urine disease

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Biochemical investigations of a case of glycogenstorage disease (von Gierke's disease).

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Argininosuccinic aciduria: identification and reactions of the abnormal metabolite in a newly described form of mental disease, with some preliminary metabolic studies

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Formation of urea from arginine in the brain of the living rat.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

The expanding pattern of the inborn errors of metabolism.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Porphyria in Sweden and South Africa

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Maple syrup urine disease; an inborn error of the metabolism of valine, leucine, and isoleucine associated with gross mental deficiency.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

The synthesis of bilirubin glucuronide in animal and human liver

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

On the nature of enzymatic defect in phenylpyruvic oligophrenia.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Sporadic or non-endemic familial cretinism with goiter.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Familial idiopathic oxalate nephrocalcinosis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Phenylpyruvic oligophrenia deficiency of phenylalanine-oxidizing system.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Congenital hypothyroidism with goitre. Absence of an iodide-concentrating mechanism

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=480570

Diarrhoea caused by deficiency of sugar splitting enzymes. I

15 November 2018

1 reference

12 December 2020

Congenital familial nonhemolytic jaundice with kernicterus

1 reference

12 December 2020

Type IV glycogenosis. Report of a case proven by characterization of glycogen and studied at necropsy

1 reference

12 December 2020

Congenital adrenal hyperplasia with hypertension: unusual steroid pattern in blood and urine

1 reference

12 December 2020

Glucuronic acid conjugation by patients with familial nonhemolytic jaundice and their relatives

1 reference

12 December 2020

Maple syrup urine disease

1 reference

12 December 2020

The suppression of androgen secretion by cortisone in a case of congenital adrenal hyperplasia

1 reference

12 December 2020

The metabolic basis for certain disorders of the thyroid gland

1 reference

12 December 2020

Studies in liver glycogen disease. Effects of glucagon and other agents on metabolic pattern and clinical status

1 reference

12 December 2020

The enzymic defect of hereditary methemoglobinemia: diaphorase

1 reference

12 December 2020

1 reference

12 December 2020

Lactate metabolism. Studies of a child with a serious congenital deviation

1 reference

12 December 2020

Severe lactose intolerance in infancy

1 reference

12 December 2020

Structure of glycogens and amylopectins. III. Normal and abnormal human glycogen

1 reference

12 December 2020

Amylo-1, 6-glucosidase in muscle tissue in generalized glycogen storage disease

1 reference

12 December 2020

Heterogeneous glycogen storage disease in siblings and favorable response to synthetic androgen administration

1 reference

12 December 2020

Defect in uptake of galactose-1-phosphate into liver nucleotides in congenital galactosemia

1 reference

12 December 2020

[Study of a case of functional hypoglycemia caused by intolerance to fructose.]

1 reference

12 December 2020

Galactose tolerance in glycogen storage disease

1 reference

12 December 2020

Maple syrup urine disease

1 reference

12 December 2020

An investigation of porphyria cutanea tarda

1 reference

12 December 2020

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

1 reference

12 December 2020

The metabolism of iodine in 2 goitrous cretins compared with that in 2 patients receiving methimazole

1 reference

12 December 2020

Steroid-sensitive aldehyde dehydrogenase from rabbit liver

1 reference

12 December 2020

Bile pigment metabolism

1 reference

12 December 2020

Glucuronide formation in patients with constitutional hepatic dysfunction (Gilbert's disease)

1 reference

12 December 2020

β-Aminoisobutyric Acid (α-Methyl-β-Alanine): A New Amino-Acid Obtained from Human Urine

1 reference

12 December 2020

Conversion of glycine to oxalate in primary hyperoxaluria

1 reference

12 December 2020

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

1 reference

12 December 2020

Aminoacid metabolism in cystinuria

1 reference

12 December 2020

The exchangeable character of accumulated I131 in the thyroid gland of a goitrous cretin

1 reference

12 December 2020

1 reference

12 December 2020

The porphyrias as inborn errors of metabolism

1 reference

12 December 2020

Chronic idiopathic jaundice. A study of two afflicted families

1 reference

12 December 2020

Sodium losing material in human urine

1 reference

12 December 2020

The enzymatic synthesis of beta-aminoisobutyrate, a product of valine metabolism, and of beta-alanine, a product of beta-hydroxypropionate metabolism

1 reference

12 December 2020

A familial disturbance of histidine metabolism

1 reference

12 December 2020

Histidinemia. A deficiency in histidase resulting in the urinary excretion of histidine and of imidazolepyruvic acid

1 reference

12 December 2020

Studies of ribose metabolism. IV. The metabolism of D-glucuronolactone in normal and pentosuric human subjects

1 reference

12 December 2020

Observations on the possible genetic basis of primary hyperoxaluria

1 reference

12 December 2020

Excretion of benzoquinoneacetic acid in hypovitaminosis C

1 reference

12 December 2020

A study of a family of goitrous cretins

1 reference

12 December 2020

Hereditary fructose intolerance, an inborn deficiency of liver aldolase complex

1 reference

12 December 2020

[Urinary excretion of p-oxyphenylpyruvic acid, pyruvic acid, phenol and diacetic acid following intake of p-oxyphenylpyruvic acid in the normal state and in liver disease.]

1 reference

12 December 2020

Glycogen storage disease; report of a case with abnormal glycogen structure in liver and skeletal muscle

1 reference

12 December 2020

The electrophoretic and spectroscopic characterization of Hgb M

1 reference

12 December 2020

IDIOSYNCRASY TO FRUCTOSE

1 reference

12 December 2020

Glucose-6-phosphatase of the liver in glycogen storage disease

1 reference

12 December 2020

Clinical studies with glucagon in children

1 reference

12 December 2020

Hereditary absence of muscle phosphorylase (McArdle's syndrome)

1 reference

12 December 2020

Essential pentosuria and the glucuronate-xylulose pathway

1 reference

12 December 2020

Degradation of uric acid in man

1 reference

12 December 2020

Essential Pentosuria: Renal or Enzymic Disorder

1 reference

12 December 2020

The familial incidence of low pseudocholinesterase level

1 reference

12 December 2020

The hemolytic effect of primaquine. I. The localization of the drug-induced hemolytic defect in primaquine-sensitive individuals.

1 reference

12 December 2020

[Hereditary fructose intolerance.]

1 reference

12 December 2020

Identifiers

DOI

10.1136/JCP.16.4.293

1 reference

8 August 2017

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8 August 2017

1 reference