Latest Publications and Research on Homocystinuria / Amino Acid Metabolism Disorder

Genome Med      

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.

Sun S, Weile J, Verby M, Wu Y, Wang Y, Cote AG, Fotiadou I, Kitaygorodsky J, Vidal M, Rine J, Ješina P, Kožich V, Roth FP

For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by e ... Read More

Source: PubMed

---

Mutat. Res.      

Mutational landscape screening of methylene tetrahydrofolate reductase to predict homocystinuria associated variants: An integrative computational approach.

Nagarajan H, Narayanaswamy S, Vetrivel U

Methylene tetrahydrofolate reductase (MTHFR) is a flavoprotein, involved in one-carbon pathway and is responsible for folate and homocysteine metaboli ... Read More

Source: PubMed

---

Biosci. Biotechnol. Biochem.   2020 Jan 20   

Novel method for l-methionine determination using l-methionine decarboxylase and application of the enzyme for l-homocysteine determination.

Okawa A, Hayashi M, Inagaki J, Okajima T, Tamura T, Inagaki K

For many years, clinical studies have suggested that blood levels of l-methionine and L-homocysteine correlate with health status or homocystinuria/hy ... Read More

Source: PubMed

---

Brain Dev.   2020 Jan 11   

The correlation between the evolution of bilateral basal ganglia hemorrhage using MR imaging and neurological damage recovery in an infant with methylmalonic aciduria.

Guo B, Yang L, Li X, Liu X, Wei X, Guo L

We report on one patient with methylmalonic acidemia (MMA) who presented with symmetrical hemorrhage of the caudate nucleus accompanied by severe vent ... Read More

Source: PubMed

---

Biochimie   2019 Dec 16   

Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies.

Bublil EM, Majtan T

Genetic defects in cystathionine beta-synthase (CBS), a key enzyme of organic sulfur metabolism, result in deficiency of CBS activity and a rare inbor ... Read More

Source: PubMed

---

Genome Med      

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.

Sun S, Weile J, Verby M, Wu Y, Wang Y, Cote AG, Fotiadou I, Kitaygorodsky J, Vidal M, Rine J, Ješina P, Kožich V, Roth FP

For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by e ... Read More

Source: PubMed

---

Mutat. Res.      

Mutational landscape screening of methylene tetrahydrofolate reductase to predict homocystinuria associated variants: An integrative computational approach.

Nagarajan H, Narayanaswamy S, Vetrivel U

Methylene tetrahydrofolate reductase (MTHFR) is a flavoprotein, involved in one-carbon pathway and is responsible for folate and homocysteine metaboli ... Read More

Source: PubMed

---

Biosci. Biotechnol. Biochem.   2020 Jan 20   

Novel method for l-methionine determination using l-methionine decarboxylase and application of the enzyme for l-homocysteine determination.

Okawa A, Hayashi M, Inagaki J, Okajima T, Tamura T, Inagaki K

For many years, clinical studies have suggested that blood levels of l-methionine and L-homocysteine correlate with health status or homocystinuria/hy ... Read More

Source: PubMed

---

Genome Med      

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.

Sun S, Weile J, Verby M, Wu Y, Wang Y, Cote AG, Fotiadou I, Kitaygorodsky J, Vidal M, Rine J, Ješina P, Kožich V, Roth FP

For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by e ... Read More

Source: PubMed

---

Brain Dev.   2020 Jan 11   

The correlation between the evolution of bilateral basal ganglia hemorrhage using MR imaging and neurological damage recovery in an infant with methylmalonic aciduria.

Guo B, Yang L, Li X, Liu X, Wei X, Guo L

We report on one patient with methylmalonic acidemia (MMA) who presented with symmetrical hemorrhage of the caudate nucleus accompanied by severe vent ... Read More

Source: PubMed

---

Mutat. Res.      

Mutational landscape screening of methylene tetrahydrofolate reductase to predict homocystinuria associated variants: An integrative computational approach.

Nagarajan H, Narayanaswamy S, Vetrivel U

Methylene tetrahydrofolate reductase (MTHFR) is a flavoprotein, involved in one-carbon pathway and is responsible for folate and homocysteine metaboli ... Read More

Source: PubMed

---

Biochimie   2019 Dec 16   

Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies.

Bublil EM, Majtan T

Genetic defects in cystathionine beta-synthase (CBS), a key enzyme of organic sulfur metabolism, result in deficiency of CBS activity and a rare inbor ... Read More

Source: PubMed

---

Biosci. Biotechnol. Biochem.   2020 Jan 20   

Novel method for l-methionine determination using l-methionine decarboxylase and application of the enzyme for l-homocysteine determination.

Okawa A, Hayashi M, Inagaki J, Okajima T, Tamura T, Inagaki K

For many years, clinical studies have suggested that blood levels of l-methionine and L-homocysteine correlate with health status or homocystinuria/hy ... Read More

Source: PubMed

---

Brain Dev.   2020 Jan 11   

The correlation between the evolution of bilateral basal ganglia hemorrhage using MR imaging and neurological damage recovery in an infant with methylmalonic aciduria.

Guo B, Yang L, Li X, Liu X, Wei X, Guo L

We report on one patient with methylmalonic acidemia (MMA) who presented with symmetrical hemorrhage of the caudate nucleus accompanied by severe vent ... Read More

Source: PubMed

---

Biochimie   2019 Dec 16   

Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies.

Bublil EM, Majtan T

Genetic defects in cystathionine beta-synthase (CBS), a key enzyme of organic sulfur metabolism, result in deficiency of CBS activity and a rare inbor ... Read More

Source: PubMed

---

Genome Med      

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.

Sun S, Weile J, Verby M, Wu Y, Wang Y, Cote AG, Fotiadou I, Kitaygorodsky J, Vidal M, Rine J, Ješina P, Kožich V, Roth FP

For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by e ... Read More

Source: PubMed

---

Mutat. Res.      

Mutational landscape screening of methylene tetrahydrofolate reductase to predict homocystinuria associated variants: An integrative computational approach.

Nagarajan H, Narayanaswamy S, Vetrivel U

Methylene tetrahydrofolate reductase (MTHFR) is a flavoprotein, involved in one-carbon pathway and is responsible for folate and homocysteine metaboli ... Read More

Source: PubMed

---

Biosci. Biotechnol. Biochem.   2020 Jan 20   

Novel method for l-methionine determination using l-methionine decarboxylase and application of the enzyme for l-homocysteine determination.

Okawa A, Hayashi M, Inagaki J, Okajima T, Tamura T, Inagaki K

For many years, clinical studies have suggested that blood levels of l-methionine and L-homocysteine correlate with health status or homocystinuria/hy ... Read More

Source: PubMed

---

Brain Dev.   2020 Jan 11   

The correlation between the evolution of bilateral basal ganglia hemorrhage using MR imaging and neurological damage recovery in an infant with methylmalonic aciduria.

Guo B, Yang L, Li X, Liu X, Wei X, Guo L

We report on one patient with methylmalonic acidemia (MMA) who presented with symmetrical hemorrhage of the caudate nucleus accompanied by severe vent ... Read More

Source: PubMed

---

Biochimie   2019 Dec 16   

Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies.

Bublil EM, Majtan T

Genetic defects in cystathionine beta-synthase (CBS), a key enzyme of organic sulfur metabolism, result in deficiency of CBS activity and a rare inbor ... Read More

Source: PubMed

---

Genome Med      

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.

Sun S, Weile J, Verby M, Wu Y, Wang Y, Cote AG, Fotiadou I, Kitaygorodsky J, Vidal M, Rine J, Ješina P, Kožich V, Roth FP

For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by e ... Read More

Source: PubMed

---

Mutat. Res.      

Mutational landscape screening of methylene tetrahydrofolate reductase to predict homocystinuria associated variants: An integrative computational approach.

Nagarajan H, Narayanaswamy S, Vetrivel U

Methylene tetrahydrofolate reductase (MTHFR) is a flavoprotein, involved in one-carbon pathway and is responsible for folate and homocysteine metaboli ... Read More

Source: PubMed

---

Biosci. Biotechnol. Biochem.   2020 Jan 20   

Novel method for l-methionine determination using l-methionine decarboxylase and application of the enzyme for l-homocysteine determination.

Okawa A, Hayashi M, Inagaki J, Okajima T, Tamura T, Inagaki K

For many years, clinical studies have suggested that blood levels of l-methionine and L-homocysteine correlate with health status or homocystinuria/hy ... Read More

Source: PubMed

---

Brain Dev.   2020 Jan 11   

The correlation between the evolution of bilateral basal ganglia hemorrhage using MR imaging and neurological damage recovery in an infant with methylmalonic aciduria.

Guo B, Yang L, Li X, Liu X, Wei X, Guo L

We report on one patient with methylmalonic acidemia (MMA) who presented with symmetrical hemorrhage of the caudate nucleus accompanied by severe vent ... Read More

Source: PubMed

---

Biochimie   2019 Dec 16   

Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies.

Bublil EM, Majtan T

Genetic defects in cystathionine beta-synthase (CBS), a key enzyme of organic sulfur metabolism, result in deficiency of CBS activity and a rare inbor ... Read More

Source: PubMed

---

Genome Med      

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.

Sun S, Weile J, Verby M, Wu Y, Wang Y, Cote AG, Fotiadou I, Kitaygorodsky J, Vidal M, Rine J, Ješina P, Kožich V, Roth FP

For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by e ... Read More

Source: PubMed

---

Mutat. Res.      

Mutational landscape screening of methylene tetrahydrofolate reductase to predict homocystinuria associated variants: An integrative computational approach.

Nagarajan H, Narayanaswamy S, Vetrivel U

Methylene tetrahydrofolate reductase (MTHFR) is a flavoprotein, involved in one-carbon pathway and is responsible for folate and homocysteine metaboli ... Read More

Source: PubMed

---

Biosci. Biotechnol. Biochem.   2020 Jan 20   

Novel method for l-methionine determination using l-methionine decarboxylase and application of the enzyme for l-homocysteine determination.

Okawa A, Hayashi M, Inagaki J, Okajima T, Tamura T, Inagaki K

For many years, clinical studies have suggested that blood levels of l-methionine and L-homocysteine correlate with health status or homocystinuria/hy ... Read More

Source: PubMed

---

Brain Dev.   2020 Jan 11   

The correlation between the evolution of bilateral basal ganglia hemorrhage using MR imaging and neurological damage recovery in an infant with methylmalonic aciduria.

Guo B, Yang L, Li X, Liu X, Wei X, Guo L

We report on one patient with methylmalonic acidemia (MMA) who presented with symmetrical hemorrhage of the caudate nucleus accompanied by severe vent ... Read More

Source: PubMed

---

Biochimie   2019 Dec 16   

Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies.

Bublil EM, Majtan T

Genetic defects in cystathionine beta-synthase (CBS), a key enzyme of organic sulfur metabolism, result in deficiency of CBS activity and a rare inbor ... Read More

Source: PubMed

---

Genome Med      

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.

Sun S, Weile J, Verby M, Wu Y, Wang Y, Cote AG, Fotiadou I, Kitaygorodsky J, Vidal M, Rine J, Ješina P, Kožich V, Roth FP

For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by e ... Read More

Source: PubMed

---

Mutat. Res.      

Mutational landscape screening of methylene tetrahydrofolate reductase to predict homocystinuria associated variants: An integrative computational approach.

Nagarajan H, Narayanaswamy S, Vetrivel U

Methylene tetrahydrofolate reductase (MTHFR) is a flavoprotein, involved in one-carbon pathway and is responsible for folate and homocysteine metaboli ... Read More

Source: PubMed

---

Biosci. Biotechnol. Biochem.   2020 Jan 20   

Novel method for l-methionine determination using l-methionine decarboxylase and application of the enzyme for l-homocysteine determination.

Okawa A, Hayashi M, Inagaki J, Okajima T, Tamura T, Inagaki K

For many years, clinical studies have suggested that blood levels of l-methionine and L-homocysteine correlate with health status or homocystinuria/hy ... Read More

Source: PubMed

---

Brain Dev.   2020 Jan 11   

The correlation between the evolution of bilateral basal ganglia hemorrhage using MR imaging and neurological damage recovery in an infant with methylmalonic aciduria.

Guo B, Yang L, Li X, Liu X, Wei X, Guo L

We report on one patient with methylmalonic acidemia (MMA) who presented with symmetrical hemorrhage of the caudate nucleus accompanied by severe vent ... Read More

Source: PubMed

---

Biochimie   2019 Dec 16   

Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies.

Bublil EM, Majtan T

Genetic defects in cystathionine beta-synthase (CBS), a key enzyme of organic sulfur metabolism, result in deficiency of CBS activity and a rare inbor ... Read More

Source: PubMed

---

Genome Med      

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.

Sun S, Weile J, Verby M, Wu Y, Wang Y, Cote AG, Fotiadou I, Kitaygorodsky J, Vidal M, Rine J, Ješina P, Kožich V, Roth FP

For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by e ... Read More

Source: PubMed

---

Mutat. Res.      

Mutational landscape screening of methylene tetrahydrofolate reductase to predict homocystinuria associated variants: An integrative computational approach.

Nagarajan H, Narayanaswamy S, Vetrivel U

Methylene tetrahydrofolate reductase (MTHFR) is a flavoprotein, involved in one-carbon pathway and is responsible for folate and homocysteine metaboli ... Read More

Source: PubMed

---

Biosci. Biotechnol. Biochem.   2020 Jan 20   

Novel method for l-methionine determination using l-methionine decarboxylase and application of the enzyme for l-homocysteine determination.

Okawa A, Hayashi M, Inagaki J, Okajima T, Tamura T, Inagaki K

For many years, clinical studies have suggested that blood levels of l-methionine and L-homocysteine correlate with health status or homocystinuria/hy ... Read More

Source: PubMed

---

Brain Dev.   2020 Jan 11   

The correlation between the evolution of bilateral basal ganglia hemorrhage using MR imaging and neurological damage recovery in an infant with methylmalonic aciduria.

Guo B, Yang L, Li X, Liu X, Wei X, Guo L

We report on one patient with methylmalonic acidemia (MMA) who presented with symmetrical hemorrhage of the caudate nucleus accompanied by severe vent ... Read More

Source: PubMed

---

Biochimie   2019 Dec 16   

Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies.

Bublil EM, Majtan T

Genetic defects in cystathionine beta-synthase (CBS), a key enzyme of organic sulfur metabolism, result in deficiency of CBS activity and a rare inbor ... Read More

Source: PubMed

---