(Q28296732)

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Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008

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Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008 (English)

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Charles R. Scriver

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Charles R Scriver

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publication date

October 2008

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Journal of Inherited Metabolic Disease

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31

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5

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580-98

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Studies on alcaptonuria: 2. Investigations on a case of human alcaptonuria

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https://api.crossref.org/works/10.1007%2FS10545-008-0984-9

21 January 2018

The enzymatic defect in essential pentosuria

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https://api.crossref.org/works/10.1007%2FS10545-008-0984-9

21 January 2018

From genotype to phenotype: systems biology meets natural variation

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Principles for the buffering of genetic variation

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Systems biology. Life's complexity pyramid.

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A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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The human disease network

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Sir Archibald Garrod's Conception of Chemical Individuality: A Modern Appreciation

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https://pubmed.ncbi.nlm.nih.gov/18850300

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Studies on the treatment of cystinuria

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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The molecular basis of alkaptonuria

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Alkaptonuria in the Trenčín District of Czechoslovakia

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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The incidence of alkaptonuria: a study in chemical individuality. 1902 [classical article]

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Molecular defects in alkaptonuria

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Molecular biology of mammalian plasma membrane amino acid transporters

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Alkaptonuria: such a long journey.

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https://pubmed.ncbi.nlm.nih.gov/18850300

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Mendelian disorders deserve more attention

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https://pubmed.ncbi.nlm.nih.gov/18850300

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CYSTINURIA AND CYSTINE LITHIASIS.

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Pathways of carbohydrate metabolism in normal and neoplastic cells

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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The nature of the defect in tyrosine metabolism in alcaptonuria

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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On the nature of L-xylulose reductase deficiency in essential pentosuria

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).

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12 December 2020

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Homogentisate oxidase of liver.

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https://pubmed.ncbi.nlm.nih.gov/18850300

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Genetic Control of Biochemical Reactions in Neurospora

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https://pubmed.ncbi.nlm.nih.gov/18850300

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The excretion of amino acids by cystinuric patients and their relatives

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Quantitative studies on the urinary cystine in patients with cystine stone formation and in their relatives

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Monogenic traits are not simple: lessons from phenylketonuria

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Studies of Alcaptonuria: Inheritance of 47 Cases in Eight Highly Inter-related Dominican Kindreds

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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The molecular basis of dominance.

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Natural history of alkaptonuria

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Crystal structure of human L-xylulose reductase holoenzyme: probing the role of Asn107 with site-directed mutagenesis

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Garrod's foresight; our hindsight

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Phenotypes and genotypes in cystinuria

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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The Hartnup phenotype: Mendelian transport disorder, multifactorial disease

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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A Contribution to the Study of Alkaptonuria

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Mutation analysis of SLC7A9 in cystinuria patients in Sweden

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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A science of the individual: implications for a medical school curriculum

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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aku, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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After the genome--the phenome?

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Molecular characterization of mammalian dicarbonyl/L-xylulose reductase and its localization in kidney

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Sir Archibald Garrod's Inborn Errors of Metabolism. IV. Pentosuria

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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The pathogenesis of cystinuria. II. Polarographic studies of the metabolism of sulfur-containing amino-acids

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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The genetics of heteromeric amino acid transporters

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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The effect of intravenous lysine on the renal clearances of cystine, arginine and ornithine in normal subjects, in patients with cystinuria and Fanconi syndrome and in their relatives

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Nature of the Defect in Alcaptonuria

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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The genetics of cystinuria

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Sir Archibald Garrod's Inborn Errors of Metabolism. III. Albinism

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Mortality of persons with xyloketosuria; a follow-up study of a rare metabolic anomaly

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Alkaptonuria in a cynomolgus monkey (Macaca fascicularis)

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Biochemical Identification of Homogentisic Acid Pigment in an Ochronotic Egyptian Mummy

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The control of flux

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Excretion of amino acids in cystinuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Use of nitisinone in patients with alkaptonuria.

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Intestinal Absorption and Renal Extraction of Cystine and Cysteine in Cystinuria

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Aminoacidurias: Clinical and molecular aspects.

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Adopting orphan drugs--two dozen years of treating rare diseases.

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https://pubmed.ncbi.nlm.nih.gov/18850300

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Human L-xylulose reductase variation: family and population studies

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Aminoacid metabolism in cystinuria

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Cloning of the homogentisate 1,2-dioxygenase gene, the key enzyme of alkaptonuria in mouse

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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The urinary excretion of amino acids by a cystinuric subject.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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The human homogentisate 1,2-dioxygenase (HGO) gene

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Normal plasma free amino acid values in adults: the influence of some common physiological variables.

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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The human gene for alkaptonuria (AKU) maps to chromosome 3q.

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Ascorbic acid and alkaptonuria

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https://pubmed.ncbi.nlm.nih.gov/18850300

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Does hereditary metabolic disease modulate senescence and ageing?

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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The incidence of alkaptonuria: a study in chemical individuality. 1902.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The pattern of amino-acid excretion in cystinuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

based on heuristic

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Marriage of two complete albinos with normally pigmented offspring

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Crystal structure of human homogentisate dioxygenase

1 reference

https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Sir Archibald Garrod's inborn errors of metabolism. I. Cystinuria

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2

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https://pubmed.ncbi.nlm.nih.gov/18850300

12 December 2020

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10.1007/S10545-008-0984-9

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