(Q40683934)

22 September 2017

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title

Maple syrup urine disease 1954 to 1993. (English)

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maple syrup urine disease

22 September 2017

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F Peinemann

1

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PubMed ID

8051937

22 September 2017

D J Danner

series ordinal

2

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22 September 2017

1 January 1994

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Journal of Inherited Metabolic Disease

22 September 2017

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22 September 2017

17

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22 September 2017

3-15

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22 September 2017

1

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https://scigraph.springernature.com/pub.10.1007/bf00735389

22 September 2017

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cites work

Resolution and reconstitution of bovine kidney branched-chain 2-oxo acid dehydrogenase complex

1 reference

https://api.crossref.org/works/10.1007%2FBF00735389

Branched chain acyltransferase absence due to an Alu-based genomic deletion allele and an exon skipping allele in a compound heterozygote proband expressing maple syrup urine disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00735389

Oxidative decarboxylation of 4-methylthio-2-oxobutyrate by branched-chain 2-oxo acid dehydrogenase complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00735389

The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain alpha-keto acid dehydrogenase complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00735389

The 2-oxo acid dehydrogenase complexes: recent advances

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00735389

Nucleotide sequence of the 5' end including the initiation codon of cDNA for the E1 alpha subunit of the human branched chain alpha-ketoacid dehydrogenase complex

21 January 2018

2 references

https://api.crossref.org/works/10.1007%2FBF00735389

21 January 2018

12 December 2020

Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease

1 reference

12 December 2020

Molecular cloning of the mature E1b-beta subunit of human branched-chain alpha-keto acid dehydrogenase complex

1 reference

12 December 2020

1 reference

12 December 2020

Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component human alpha-ketoacid dehydrogenase complexes

1 reference

12 December 2020

Amino acid sequence at the major phosphorylation site on bovine kidney branched-chain 2-oxoacid dehydrogenase complex

1 reference

12 December 2020

Mechanisms of mitochondrial protein import

1 reference

12 December 2020

1 reference

12 December 2020

Maple syrup urine disease

1 reference

12 December 2020

Stress proteins and mitochondrial protein import

1 reference

12 December 2020

Structure-function relationships in dihydrolipoamide acyltransferases

1 reference

12 December 2020

Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease

1 reference

12 December 2020

Regulation of branched-chain alpha-ketoacid dehydrogenase kinase

1 reference

12 December 2020

Maple Syrup Urine Disease: Coenzyme function and prenatal monitoring

1 reference

12 December 2020

Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations

1 reference

12 December 2020

Purification and characterization of branched chain alpha-ketoacid dehydrogenase from bovine liver mitochondria

1 reference

12 December 2020

Three-dimensional structure of the lipoyl domain from Bacillus stearothermophilus pyruvate dehydrogenase multienzyme complex

1 reference

12 December 2020

Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification

1 reference

12 December 2020

Characterization of the transcriptional regulatory region of the human dihydrolipoamide dehydrogenase gene

1 reference

12 December 2020

Phosphorylation sites and inactivation of branched-chain alpha-ketoacid dehydrogenase isolated from rat heart, bovine kidney, and rabbit liver, kidney, heart, brain, and skeletal muscle.

1 reference

12 December 2020

Purification and characterization of human liver branched-chain alpha-keto acid dehydrogenase complex

1 reference

12 December 2020

Maple syrup urine disease: interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination

1 reference

12 December 2020

Maple syrup urine disease: clinical and biochemical significance of gene analysis

1 reference

12 December 2020

Nutrient intakes of adolescents with phenylketonuria and infants and children with maple syrup urine disease on semisynthetic diets

1 reference

12 December 2020

1 reference

12 December 2020

Metabolism of the white blood cells in maple-syrup-urine disease

1 reference

12 December 2020

Purification and properties of the catalytic subunit of the branched-chain alpha-keto acid dehydrogenase phosphatase from bovine kidney mitochondria

1 reference

12 December 2020

A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34

1 reference

12 December 2020

A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients

1 reference

12 December 2020

Multi-site phosphorylation of bovine kidney branched-chain 2-oxoacid dehydrogenase complex

1 reference

12 December 2020

Thiamine response in maple syrup urine disease

1 reference

12 December 2020

Sequential action of mitochondrial chaperones in protein import into the matrix

1 reference

12 December 2020

Identification of a cDNA clone in lambda gt11 for the transacylase component of branched chain ketoacid dehydrogenase

1 reference

12 December 2020

Thiamine increases the specific activity of human liver branched chain α-ketoacid dehydrogenase

1 reference

12 December 2020

Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1

1 reference

12 December 2020

Mitochondrial import and processing of an in vitro synthesized human prebranched chain acyltransferase fragment

1 reference

12 December 2020

Gene for lipoamide dehydrogenase maps to human chromosome 7

1 reference

12 December 2020

Biochemical studies on branched-chain oxoacid oxidases

1 reference

12 December 2020

Prospective study of maple-syrup-urine disease for the first four days of life

1 reference

12 December 2020

Absence of branched chain acyl-transferase as a cause of maple syrup urine disease

1 reference

12 December 2020

Maple syrup disease; isolation and identification of organic acids in the urine

1 reference

12 December 2020

Complete primary structure of the transacylase (E2b) subunit of the human branched chain alpha-keto acid dehydrogenase complex

1 reference

12 December 2020

Thiamin-responsive maple syrup urine disease in a patient antigenically missing dihydrolipoamide acyltransferase

1 reference

12 December 2020

Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex

1 reference

12 December 2020

Branched-chain alpha-ketoacid dehydrogenase kinase. Molecular cloning, expression, and sequence similarity with histidine protein kinases

1 reference

12 December 2020

Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia

1 reference

12 December 2020

Purification and characterization of branched chain alpha-keto acid dehydrogenase complex of bovine kidney

1 reference

12 December 2020

Isolation and sequence determination of cDNA clones for porcine and human lipoamide dehydrogenase. Homology to other disulfide oxidoreductases

1 reference

12 December 2020

Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31

1 reference

12 December 2020

Localization of the human gene for the El alpha subunit of branched chain keto acid dehydrogenase (BCKDHA) to chromosome 19q13.1----q13.2

1 reference

12 December 2020

Intellectual performance of children with maple syrup urine disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of specific subunits of highly purified bovine liver branched-chain ketoacid dehydrogenase

1 reference

12 December 2020

Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene

1 reference

12 December 2020

Construction and nucleotide sequence of a cDNA encoding the full-length preprotein for human branched chain acyltransferase

1 reference

12 December 2020

Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population

1 reference

12 December 2020

Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex

1 reference

12 December 2020

Characterization of the promoter-regulatory region and structural organization of E1 alpha gene (BCKDHA) of human branched-chain alpha-keto acid dehydrogenase complex

1 reference

12 December 2020

Thiamine-responsive inborn errors of metabolism

1 reference

12 December 2020

Structural organization and chromosomal localization of the gene for the E1 beta subunit of human branched chain alpha-keto acid dehydrogenase

1 reference

12 December 2020

Dietary management of inborn errors of amino acid metabolism with protein-modified diets.

1 reference

12 December 2020

Nucleotide sequence of a cDNA for branched chain acyltransferase with analysis of the deduced protein structure

1 reference

12 December 2020

How do polypeptides cross the mitochondrial membranes?

1 reference

12 December 2020

Altered phosphorylation state of branched-chain 2-oxo acid dehydrogenase in a branched-chain acyltransferase deficient human fibroblast cell line

1 reference

12 December 2020

Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex

1 reference

12 December 2020

Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex (1991) FEBS Letters 284, 34-38

1 reference

12 December 2020

Direct physical evidence for stabilization of branched-chain alpha-ketoacid dehydrogenase by thiamin pyrophosphate

1 reference

12 December 2020

Thiamine-responsive maple-syrup-urine disease

1 reference

12 December 2020

Solubilization and functional reconstitution of the branched-chain alpha-keto acid transporter from rat heart mitochondria

1 reference

12 December 2020

Expression and assembly of a functional E1 component (alpha 2 beta 2) of mammalian branched-chain alpha-ketoacid dehydrogenase complex in Escherichia coli

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00735389

1 reference

PubMed ID

8051937

Dimensions Publication ID

22 September 2017

0 references

1 reference

PubMed ID

8051937