List of works - S. Harvey Mudd

A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency

scientific article

A single mutation at Tyr143 of human S-adenosylhomocysteine hydrolase renders the enzyme thermosensitive and affects the oxidation state of bound cofactor nicotinamide-adenine dinucleotide.

scientific article published on December 2006

Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency

scientific article

Adverse event associated with methionine loading test: a case report

scientific article

Characteristic MR imaging changes in severe hypermethioninemic states.

scientific article

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.

scientific article

Corrigendum to "Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening" [Mol. Genet. Metab. 110 (2013) 218-221].

scientific article published on 11 February 2015

Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies

scientific article

Dimethyl sulfone in human cerebrospinal fluid and blood plasma confirmed by one-dimensional (1)H and two-dimensional (1)H-(13)C NMR.

scientific article

Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency

scientific article published in August 2002

Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.

scientific article published on 15 July 2010

Glycine N-methyltransferase and regulation of S-adenosylmethionine levels

scientific article

HED

scholarly article

Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme.

scientific article published on 20 May 2008

Identification of Lps2 as a key transducer of MyD88-independent TIR signalling

scientific journal article

Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap

scientific article published in May 2003

Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency

scientific article published on 18 June 2015

Maternal methionine adenosyltransferase I/III deficiency: reproductive outcomes in a woman with four pregnancies

scientific article published in January 2003

Metabolic Profiling of Total Homocysteine and Related Compounds in Hyperhomocysteinemia: Utility and Limitations in Diagnosing the Cause of Puzzling Thrombophilia in a Family ⬇️

scientific article published on 04 June 2013

Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation ⬇️

scientific article published on December 1, 2002

Methyl balance and transmethylation fluxes in humans

scientific article published in January 2007

Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia

scientific article published on 23 December 2015

Neurologically normal development of a patient with severe methionine adenosyltransferase I/III deficiency after continuing dietary methionine restriction.

scientific article published on 23 August 2013

Population Screening ⬇️

scientific article published on April 17, 2003

Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.

scientific article published on 3 April 2007

Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency

scientific article

S-adenosylhomocysteine hydrolase (AHCY) deficiency: two novel mutations with lethal outcome

scientific article

S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism

scholarly article

S‐adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes ⬇️

scientific article published on September 18, 2010

The 5th workshop on the assessment of adequate intake of dietary amino acids: general discussion 1

scientific article published on 01 June 2006

Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine ⬇️

scientific article published on November 12, 2011

List of works by S. Harvey Mudd

A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency

A single mutation at Tyr143 of human S-adenosylhomocysteine hydrolase renders the enzyme thermosensitive and affects the oxidation state of bound cofactor nicotinamide-adenine dinucleotide.

Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency

Adverse event associated with methionine loading test: a case report

Characteristic MR imaging changes in severe hypermethioninemic states.

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.

Corrigendum to "Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening" [Mol. Genet. Metab. 110 (2013) 218-221].

Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies

Dimethyl sulfone in human cerebrospinal fluid and blood plasma confirmed by one-dimensional (1)H and two-dimensional (1)H-(13)C NMR.

Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency

Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.

Glycine N-methyltransferase and regulation of S-adenosylmethionine levels

HED

Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme.

Identification of Lps2 as a key transducer of MyD88-independent TIR signalling

Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap

Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency

Maternal methionine adenosyltransferase I/III deficiency: reproductive outcomes in a woman with four pregnancies

Metabolic Profiling of Total Homocysteine and Related Compounds in Hyperhomocysteinemia: Utility and Limitations in Diagnosing the Cause of Puzzling Thrombophilia in a Family ⬇️

Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation ⬇️

Methyl balance and transmethylation fluxes in humans

Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia

Neurologically normal development of a patient with severe methionine adenosyltransferase I/III deficiency after continuing dietary methionine restriction.

Population Screening ⬇️

Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.

Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency

S-adenosylhomocysteine hydrolase (AHCY) deficiency: two novel mutations with lethal outcome

S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism

S‐adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes ⬇️

The 5th workshop on the assessment of adequate intake of dietary amino acids: general discussion 1

Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine ⬇️