(Q40671831)

22 September 2017

Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). (English)

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22 September 2017

2

Robert A Hegele

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author name string

Jian Wang

series ordinal

1

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22 September 2017

6 February 2003

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22 September 2017

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22 September 2017

112

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22 September 2017

4

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22 September 2017

404-408

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https://scigraph.springernature.com/pub.10.1007/s00439-003-0906-8

22 September 2017

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cites work

Cystathioninuria not Associated with Vitamin B<sub>6</sub> Dependency: A Probably New Type of Cystathioninuria

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12 December 2020

Cystathioninuria in Two Healthy Siblings

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12 December 2020

Maternal gamma-cystathionase deficiency: absence of both teratogenic effects and pregnancy complications

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12 December 2020

Concurrence of cystathioninuria, nephrogenic diabetes insipidus and severe anemia

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12 December 2020

Cystathioninuria: Study of an infant withnormal mentality, thrombocytopenia, and renal calculi

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12 December 2020

Genetic defects as important factors for moderate hyperhomocysteinemia

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12 December 2020

Cystathioninuria in Down's syndrome.

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12 December 2020

Cystathioninemia: A benign genetic condition

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12 December 2020

Cystathioninuria and renal iminoglycinuria in a pedigree

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12 December 2020

Pyridoxal-5'-phosphate determination by a sensitive micromethod in human blood, urine and tissues; its relation to cystathioninuria in neuroblastoma and biliary atresia

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12 December 2020

Homocystinuria, arteriosclerosis, methylmalonic aciduria, and methyltransferase deficiency: a key case revisited

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12 December 2020

Latent cystathioninuria

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12 December 2020

Total homocysteine is associated with nephropathy in non-insulin-dependent diabetes mellitus

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12 December 2020

Cystathioninuria in patients with neuroblastoma

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12 December 2020

Genetic determinants of hyperhomocysteinaemia: the roles of cystathionine beta-synthase and 5,10-methylenetetrahydrofolate reductase

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12 December 2020

Review of Metabolic Screening Program of Children's Hospital, Vancouver, British Columbia. 1971–1977

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12 December 2020

Occurrence of secondary cystathioninuria in children with inherited metabolic disorders, liver diseases, neoplasms, cystic fibrosis and celiac disease

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12 December 2020

Cystathioninuria accompanying necrotizing encephalomyelopathy of childhood.

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12 December 2020

Cystathionase Deficiency: Evidence for Genetic Heterogeneity in Primary Cystathioninuria

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12 December 2020

Clinical relevance of hyperhomocysteinaemia in atherothrombotic disease

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12 December 2020

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12 December 2020

Newborn urine screening experience with over one million infants in the Quebec Network of Genetic Medicine

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12 December 2020

Cystathionine metabolism in neuroblastoma

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12 December 2020

Cystathioninuria and its origin in children with hepatoblastoma

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12 December 2020

Urine screening for aminoacidopathies: Is it beneficial?

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12 December 2020

Homocysteine, cystathionine, methylmalonic acid and B-vitamins in patients with renal disease

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12 December 2020

Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies

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12 December 2020

10.1007/S00439-003-0906-8

Identifiers

DOI

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Dimensions Publication ID

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PubMed ID

12574942