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Query author contributions in Reactome

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Pathways reviewed by Watkins, D (517427)

DB_ID Name
3296482 Defects in vitamin and cofactor metabolism
3359462 Defective AMN causes MGA1
3359485 Defective CD320 causes MMATC
3359463 Defective CUBN causes MGA1
3359471 Defective MMAB causes MMA, cblB type
3359474 Defective MMACHC causes MAHCC
3359473 Defective MMADHC causes MMAHCD
3359469 Defective MTR causes HMAG
3359467 Defective MTRR causes HMAE
3359454 Defective TCN2 causes TCN2 deficiency
3359475 Defective MMAA causes MMA, cblA type
3359457 Defective CBLIF causes IFD
3296469 Defects in cobalamin (B12) metabolism
3359478 Defective MUT causes MMAM

Details on Person Watkins, D

Class:IdPerson:517427
_displayNameWatkins, D
_timestamp2010-02-18 14:48:25
created[InstanceEdit:517430] D'Eustachio, P, 2010-02-18
firstnameDavid
initialD
modified[InstanceEdit:517431] D'Eustachio, P, 2010-02-18
surnameWatkins
(author)[InstanceEdit:4093346] Watkins, D, 2013-08-14
[LiteratureReference:517423] The molecular basis of glutamate formiminotransferase deficiency
[LiteratureReference:3000076] Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12)
[LiteratureReference:3095895] Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
[LiteratureReference:3132779] Inborn errors of cobalamin absorption and metabolism
[LiteratureReference:3149525] Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism
[LiteratureReference:3159300] Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism
[LiteratureReference:3318577] Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations
[LiteratureReference:3322111] Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L
[LiteratureReference:3928676] Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
List all 11 refering instances
(chapterAuthors)[Book:3446763] The Online Metabolic and Molecular Bases of Inherited Disease 0079130356 Valle, D Chapter 155: Inherited Disorders of Folate and Cobalamin Transport and Metabolism
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