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Inborn Errors of Metabolism

Latest Publications and Research on Inborn Errors of Metabolism

Front Genet      

A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit.

Zhang W, Yang Y, Peng W, Chang J, Mei Y, Yan L, Chen Y, Wei X, Liu Y, Wang Y, Feng Z

Inborn errors of metabolism (IEMs) have great repercussions in neonatal intensive care units (NICUs). However, the integrative analysis of the inciden ... Read More

Source: PubMed
Orphanet J Rare Dis      

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.

Varela P, Mastroianni Kirsztajn G, Motta FL, Martin RP, Turaça LT, Ferrer HLF, Gomes CP, Nicolicht P, Mara Marins M, Pessoa JG, Braga MC, D'Almeida V, Martins AM, Pesquero JB

Fabry disease is a rare X-linked inherited disorder caused by deficiency of a-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the ... Read More

Source: PubMed
N. Engl. J. Med.      

Statins for Familial Hypercholesterolemia from Childhood. Reply.

Luirink IK, Kusters DM, Hutten BA

Read More

Source: PubMed
N. Engl. J. Med.      

Statins for Familial Hypercholesterolemia from Childhood.

Murata Y, Kami M

Read More

Source: PubMed
N. Engl. J. Med.      

Statins for Familial Hypercholesterolemia from Childhood.

Bijl D, Hama R

Read More

Source: PubMed
Front Genet      

A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit.

Zhang W, Yang Y, Peng W, Chang J, Mei Y, Yan L, Chen Y, Wei X, Liu Y, Wang Y, Feng Z

Inborn errors of metabolism (IEMs) have great repercussions in neonatal intensive care units (NICUs). However, the integrative analysis of the inciden ... Read More

Source: PubMed
Orphanet J Rare Dis      

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.

Varela P, Mastroianni Kirsztajn G, Motta FL, Martin RP, Turaça LT, Ferrer HLF, Gomes CP, Nicolicht P, Mara Marins M, Pessoa JG, Braga MC, D'Almeida V, Martins AM, Pesquero JB

Fabry disease is a rare X-linked inherited disorder caused by deficiency of a-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the ... Read More

Source: PubMed
N. Engl. J. Med.      

Statins for Familial Hypercholesterolemia from Childhood. Reply.

Luirink IK, Kusters DM, Hutten BA

Read More

Source: PubMed
N. Engl. J. Med.      

Statins for Familial Hypercholesterolemia from Childhood.

Murata Y, Kami M

Read More

Source: PubMed
N. Engl. J. Med.      

Statins for Familial Hypercholesterolemia from Childhood.

Bijl D, Hama R

Read More

Source: PubMed
Front Genet      

A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit.

Zhang W, Yang Y, Peng W, Chang J, Mei Y, Yan L, Chen Y, Wei X, Liu Y, Wang Y, Feng Z

Inborn errors of metabolism (IEMs) have great repercussions in neonatal intensive care units (NICUs). However, the integrative analysis of the inciden ... Read More

Source: PubMed
Orphanet J Rare Dis      

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.

Varela P, Mastroianni Kirsztajn G, Motta FL, Martin RP, Turaça LT, Ferrer HLF, Gomes CP, Nicolicht P, Mara Marins M, Pessoa JG, Braga MC, D'Almeida V, Martins AM, Pesquero JB

Fabry disease is a rare X-linked inherited disorder caused by deficiency of a-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the ... Read More

Source: PubMed
N. Engl. J. Med.      

Statins for Familial Hypercholesterolemia from Childhood. Reply.

Luirink IK, Kusters DM, Hutten BA

Read More

Source: PubMed
N. Engl. J. Med.      

Statins for Familial Hypercholesterolemia from Childhood.

Murata Y, Kami M

Read More

Source: PubMed
N. Engl. J. Med.      

Statins for Familial Hypercholesterolemia from Childhood.

Bijl D, Hama R

Read More

Source: PubMed

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