(Q37838882)

24 August 2017

1 reference

title

Hypermethioninemias of genetic and non-genetic origin: A review (English)

1 reference

24 August 2017

S Harvey Mudd

1

1 reference

24 August 2017

9 February 2011

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

24 August 2017

1 reference

24 August 2017

157C

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24 August 2017

1

1 reference

24 August 2017

3-32

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Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids

24 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Analysis of the 5' non-coding region of rat liver S-adenosylmethionine synthetase mRNA and comparison of the Mr deduced from the cDNA sequence and the purified enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Current strategies for the treatment of hereditary tyrosinemia type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Glycine N -methyltransferase deficiency: a new patient with a novel mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

S-Adenosylhomocysteine hydrolase deficiency: a second patient, the younger brother of the index patient, and outcomes during therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

S-Adenosylhomocysteine hydrolase (AdoHcyase) deficiency: enzymatic capabilities of human AdoHcyase are highly effected by changes to codon 89 and its surrounding residues

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Persistent hypermethioninaemia with dominant inheritance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Human glutathione transferase zeta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Specific loss of the high-molecular-weight form of S-adenosyl-L-methionine synthetase in human liver cirrhosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

A simple rapid immunoassay for S-adenosylhomocysteine in plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

HOMOCYSTINURIA: A NEW INBORN ERROR OF METABOLISM ASSOCIATED WITH MENTAL DEFICIENCY.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Spectrum of hypermethioninemia in neonatal screening.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Adverse event associated with methionine loading test: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Murine models of hyperhomocysteinemia and their vascular phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Citrin deficiency, a perplexing global disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Alleviation of intrasteric inhibition by the pathogenic activation domain mutation, D444N, in human cystathionine beta-synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Characterization of a fungal maleylacetoacetate isomerase gene and identification of its human homologue

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Gene structure, chromosomal location, and expression pattern of maleylacetoacetate isomerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Maleylacetoacetate isomerase (MAAI/GSTZ)-deficient mice reveal a glutathione-dependent nonenzymatic bypass in tyrosine catabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Methionine metabolism in mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Plasma amino acids in patients with hepatic encephalopathy. Effects of amino acid infusions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

High frequency (71%) of cystathionine β-synthase mutation G307S in Irish homocystinuria patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Milk protein quantity and quality in low-birth-weight infants. III. Effects on sulfur amino acids in plasma and urine

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

HOMOCYSTINURIA: ABSENCE OF CYSTATHIONINE IN THE BRAIN.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

The identification of homocystine in the urine

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Bone mineral density determinations by dual-energy x-ray absorptiometry in the management of patients with Marfan syndrome--some factors which affect the measurement

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Molecular targeting of proteins by L-homocysteine: mechanistic implications for vascular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Acute hereditary tyrosinaemia type I: clinical, biochemical and haematological studies in twins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Isolation of a cDNA encoding the rat liver S-adenosylmethionine synthetase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Modification of the structure and function of fibrillin-1 by homocysteine suggests a potential pathogenetic mechanism in homocystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Molecular effects of homocysteine on cbEGF domain structure: insights into the pathogenesis of homocystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Murine cystathionine gamma-lyase: complete cDNA and genomic sequences, promoter activity, tissue distribution and developmental expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Allopurinol challenge tests performed before and after living-related donor liver transplantation in citrullinaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

The role of paraoxonase 1 in the detoxification of homocysteine thiolactone

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Genetic determinants of homocysteine thiolactonase activity in humans: implications for atherosclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

The role of cystathionine beta-synthase in homocysteine metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Endogenous production of hydrogen sulfide in mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Tyrosinemia type I: a clinico-laboratory case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Trypsin cleavage of human cystathionine beta-synthase into an evolutionarily conserved active core: structural and functional consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Hydrogen sulfide: from brain to gut.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

STUDIES IN METHIONINE AND SULFUR METABOLISM. I. THE FATE OF INTRAVENOUSLY ADMINISTERED METHIONINE, IN NORMAL INDIVIDUALS AND IN PATIENTS WITH LIVER DAMAGE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Methionine adenosyltransferase: structure and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Consensus nomenclature for the mammalian methionine adenosyltransferase genes and gene products.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Cystathionine beta-synthase mutations in homocystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Methionine-loading test: evaluation of adverse effects and safety in an epidemiological study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Tyrosinaemia type I — an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Self-induced correction of the genetic defect in tyrosinemia type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Mechanisms of homocysteine-induced atherothrombosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Characterization of a glycine N-methyltransferase gene knockout mouse model for hepatocellular carcinoma: Implications of the gender disparity in liver cancer susceptibility.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Mice deficient in glutathione transferase zeta/maleylacetoacetate isomerase exhibit a range of pathological changes and elevated expression of alpha, mu, and pi class glutathione transferases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

On the enzymic defects in hereditary tyrosinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Isolated thrombosis due to the cystathionine β‐synthase mutation c.833T>C (I278T)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Glycine N-methyltransferase-/- mice develop chronic hepatitis and glycogen storage disease in the liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Is the increase in serum cystathionine levels in patients with liver cirrhosis a consequence of impaired homocysteine transsulfuration at the level of gamma-cystathionase?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Methionine adenosyltransferase 1A knockout mice are predisposed to liver injury and exhibit increased expression of genes involved in proliferation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Evidence for McKusick's hypothesis of deficient collagen cross-linking in patients with homocystinuria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Effect of naturally occurring mutations in human glycine N-methyltransferase on activity and conformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

A glycine N-methyltransferase knockout mouse model for humans with deficiency of this enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Glycine N-methyltransferase and regulation of S-adenosylmethionine levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Active cystathionine beta-synthase can be expressed in heme-free systems in the presence of metal-substituted porphyrins or a chemical chaperone

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Determination of the in vivo redox status of cysteine, cysteinylglycine, homocysteine, and glutathione in human plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Defective methionine metabolism in cirrhosis: relation to severity of liver disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

An investigation of the catalytic mechanism of S-adenosylmethionine synthetase by QM/MM calculations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Sulfur amino acid metabolism in hepatobiliary disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Loss of the glycine N-methyltransferase gene leads to steatosis and hepatocellular carcinoma in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Hsp70 chaperones: cellular functions and molecular mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Nitisinone in the treatment of hereditary tyrosinaemia type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Impaired homocysteine transsulfuration is an indicator of alcoholic liver disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Structural insights into mutations of cystathionine beta-synthase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Plasma amino-acid patterns in liver disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

HOMOCYSTINURIA: AN ENZYMATIC DEFECT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Labile methyl group balances in the human: The role of sarcosine

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Homocysteine and its disulfide derivatives: a suggested consensus terminology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Isolated hypermethioninemia: measurements of S-adenosylmethionine and choline.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Ocular findings among patients with late-diagnosed or poorly controlled homocystinuria compared with a screened, well-controlled population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Deletion mutagenesis of human cystathionine beta-synthase. Impact on activity, oligomeric status, and S-adenosylmethionine regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Homocysteine-NMDA receptor-mediated activation of extracellular signal-regulated kinase leads to neuronal cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Conformational signals in the C-terminal domain of methionine adenosyltransferase I/III determine its nucleocytoplasmic distribution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

The molecular genetics of Marfan syndrome and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Remethylation and transsulfuration of methionine in cirrhosis: studies with L-[H3-methyl-1-C]methionine

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

21 January 2018

Tyrosinemia: a review

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Mitochondrial transporters as novel targets for intracellular calcium signaling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

21 January 2018

The genetic tyrosinemias

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Relative roles of albumin and ceruloplasmin in the formation of homocystine, homocysteine-cysteine-mixed disulfide, and cystine in circulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Functional rescue of mutant human cystathionine beta-synthase by manipulation of Hsp26 and Hsp70 levels in Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Chemical chaperone rescue of mutant human cystathionine beta-synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Methionine adenosyltransferase: Kinetic properties of human and rat liver enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Human cystathionine beta-synthase is a heme sensor protein. Evidence that the redox sensor is heme and not the vicinal cysteines in the CXXC motif seen in the crystal structure of the truncated enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Homocystinuria: Studies in Tissue Culture

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Protein Intake and Plasma Amino-acids of Infants of Low Birth Weight

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Fatty liver and fibrosis in glycine N-methyltransferase knockout mice is prevented by nicotinamide

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

A functional transsulfuration pathway in the brain links to glutathione homeostasis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Modulation of cystathionine beta-synthase level regulates total serum homocysteine in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocyst(e)inemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Fibrillin-1 misfolding and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Free and protein-bound homocysteine and cysteine in cystathionine beta-synthase deficiency: interrelations during short- and long-term changes in plasma concentrations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

The 3-methylglutaconic acidurias: what's new?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Changes in free amino acids in the plasma during hepatic coma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Structural insights into pathogenic mutations in heme-dependent cystathionine-beta-synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Hyperhomocysteinemia promotes inflammatory monocyte generation and accelerates atherosclerosis in transgenic cystathionine beta-synthase-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Tumor necrosis factor-alpha-induced targeted proteolysis of cystathionine beta-synthase modulates redox homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

Methionine Adenosyltransferase as a Useful Molecular Systematics Tool Revealed by Phylogenetic and Structural Analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30293

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.30293

1 reference

24 August 2017

1 reference

PubMed ID

21308989