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Dichorionic twin pregnancy complicated by duodenal atresia and umbilical cord ulceration with intrauterine fetal demise

Ultrasound in obstetrics & gynecology, 2022-03, Vol.59 (3), p.397-398

2022

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PRIMARY BILIARY CIRRHOSIS: IDENTIFICATION OF TWO MAJOR M2 MITOCHONDRIAL AUTOANTIGENS

The Lancet (British edition), 1988-05, Vol.331 (8594), p.1067-1070

1988

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Rat muscle branched-chain ketoacid dehydrogenase activity and mRNAs increase with extracellular acidemia

American Journal of Physiology: Cell Physiology, 1995-06, Vol.268 (6), p.C1395-C1400

1995

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VP29.08: Dichorionic twin pregnancy complicated by duodenal atresia and umbilical cord ulceration with intrauterine fetal demise

Ultrasound in obstetrics & gynecology, 2021-10, Vol.58 (S1), p.219-219

2021

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Gene Preference in Maple Syrup Urine Disease

American journal of human genetics, 2001-01, Vol.68 (1), p.232-237

2001

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Maple syrup urine disease 1954 to 1993

Journal of inherited metabolic disease, 1994-01, Vol.17 (1), p.3-15

1994

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Abnormal expression of histocompatibility and mitochondrial antigens by cardiac tissue from patients with myocarditis and dilated cardiomyopathy

The American journal of pathology, 1991-08, Vol.139 (2), p.337-354

1991

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Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression

Molecular genetics and metabolism, 2003-09, Vol.80 (1), p.189-195

2003

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

The Journal of biological chemistry, 1989-05, Vol.264 (13), p.7742-7746

1989

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Antimitochondrial autoantibodies in primary biliary cirrhosis recognize cross‐reactive epitope(s) on protein X and dihydrolipoamide acetyltransferase of pyruvate dehydrogenase complex

Hepatology (Baltimore, Md.), 1989-08, Vol.10 (2), p.127-133

1989

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

The Journal of biological chemistry, 1988-05, Vol.263 (13), p.6165-6168

1988

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Antimitochondrial antibodies of primary biliary cirrhosis recognize dihydrolipoamide acyltransferase and inhibit enzyme function of the branched chain alpha-ketoacid dehydrogenase complex

The Journal of immunology (1950), 1989-06, Vol.142 (11), p.3815

1989

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Amino acid deprivation induces translation of branched-chain alpha -ketoacid dehydrogenase kinase

American Journal of Physiology: Cell Physiology, 2000-11, Vol.279 (5), p.C1587-C1594

2000

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

The Journal of biological chemistry, 1992-11, Vol.267 (33), p.24090-24096

1992

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

Biochemistry (Easton), 1983-11, Vol.22 (24), p.5519-5522

1983

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Reversion of the Maple Syrup Urine Disease Phenotype of Impaired Branched Chain α-Ketoacid Dehydrogenase Complex Activity in Fibroblasts from an Affected Child

The Journal of biological chemistry, 1989-09, Vol.264 (25), p.14597-14600

1989

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

American journal of human genetics, 1988-11, Vol.43 (5), p.764-769

1988

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Comparative Metabolism and Structure of BCKD-E2 in Primary Biliary Cirrhosis

Journal of autoimmunity, 1993-08, Vol.6 (4), p.459-466

1993

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Human microRNA (miR29b) expression controls the amount of branched chain α-ketoacid dehydrogenase complex in a cell

Human molecular genetics, 2005-11, Vol.14 (22), p.3371-3377

2005

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

The Journal of clinical investigation, 1985-03, Vol.75 (3), p.858-860

1985

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Mitochondrial import of mammalian branched-chain α-keto acid dehydrogenase complex subunits

Methods in Enzymology, 2000, Vol.324, p.336-342

Danner, Dean J

2000

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

The Journal of biological chemistry, 1979-06, Vol.254 (12), p.5522-5526

1979

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Reactivity of primary biliary cirrhosis sera with a human fetal liver cDNA clone of branched‐chain α‐keto acid dehydrogenase dihydrolipoamide acyltransferase, the 52 kD mitochondrial autoantigen

Hepatology (Baltimore, Md.), 1989-01, Vol.9 (1), p.63-68

1989

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Murine branched chain α-ketoacid dehydrogenase kinase; cDNA cloning, tissue distribution, and temporal expression during embryonic development

Gene, 1998-06, Vol.212 (2), p.213-219

1998

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Expression of murine branched-chain α-keto acid dehydrogenase kinase

Methods in Enzymology, 2000, Vol.324, p.491-497

2000

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Dichorionic twin pregnancy complicated by duodenal atresia and umbilical cord ulceration with intrauterine fetal demise

PRIMARY BILIARY CIRRHOSIS: IDENTIFICATION OF TWO MAJOR M2 MITOCHONDRIAL AUTOANTIGENS

Rat muscle branched-chain ketoacid dehydrogenase activity and mRNAs increase with extracellular acidemia

VP29.08: Dichorionic twin pregnancy complicated by duodenal atresia and umbilical cord ulceration with intrauterine fetal demise

Gene Preference in Maple Syrup Urine Disease

Maple syrup urine disease 1954 to 1993

Abnormal expression of histocompatibility and mitochondrial antigens by cardiac tissue from patients with myocarditis and dilated cardiomyopathy

Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression

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

Antimitochondrial autoantibodies in primary biliary cirrhosis recognize cross‐reactive epitope(s) on protein X and dihydrolipoamide acetyltransferase of pyruvate dehydrogenase complex

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

Antimitochondrial antibodies of primary biliary cirrhosis recognize dihydrolipoamide acyltransferase and inhibit enzyme function of the branched chain alpha-ketoacid dehydrogenase complex

Amino acid deprivation induces translation of branched-chain alpha -ketoacid dehydrogenase kinase

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

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

Reversion of the Maple Syrup Urine Disease Phenotype of Impaired Branched Chain α-Ketoacid Dehydrogenase Complex Activity in Fibroblasts from an Affected Child

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

Comparative Metabolism and Structure of BCKD-E2 in Primary Biliary Cirrhosis

Human microRNA (miR29b) expression controls the amount of branched chain α-ketoacid dehydrogenase complex in a cell

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

Mitochondrial import of mammalian branched-chain α-keto acid dehydrogenase complex subunits

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

Reactivity of primary biliary cirrhosis sera with a human fetal liver cDNA clone of branched‐chain α‐keto acid dehydrogenase dihydrolipoamide acyltransferase, the 52 kD mitochondrial autoantigen

Murine branched chain α-ketoacid dehydrogenase kinase; cDNA cloning, tissue distribution, and temporal expression during embryonic development

Expression of murine branched-chain α-keto acid dehydrogenase kinase

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