(Q28373907)

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Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency

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title

Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency (English)

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main subject

holocarboxylase synthetase deficiency

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J Belmont

2

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author name string

L P Thuy

series ordinal

1

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W L Nyhan

series ordinal

3

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language of work or name

English

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publication date

February 1999

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published in

Prenatal Diagnosis

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volume

19

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issue

2

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page(s)

108-12

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cites work

Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency

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reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199902%2919%3A2%3C108%3A%3AAID-PD476%3E3.0.CO%3B2-E

retrieved

21 January 2018

Regulation and intracellular localization of the biotin holocarboxylase synthetase of 3T3-L1 cells

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reference URL

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retrieved

21 January 2018

Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency

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21 January 2018

Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection

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21 January 2018

Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism

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21 January 2018

Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli

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21 January 2018

Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts

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21 January 2018

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA

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reference URL

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21 January 2018

Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate.

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21 January 2018

A new immunochemical assay for biotin

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21 January 2018

Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients

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21 January 2018

Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency

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21 January 2018

Pitfalls in the prenatal diagnosis of propionic acidemia

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21 January 2018

Biotin-responsive beta-methylcrotonylglycinuria

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21 January 2018

Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia

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retrieved

21 January 2018

Prenatal treatment of biotin responsive multiple carboxylase deficiency

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199902%2919%3A2%3C108%3A%3AAID-PD476%3E3.0.CO%3B2-E

retrieved

21 January 2018

Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency

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reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199902%2919%3A2%3C108%3A%3AAID-PD476%3E3.0.CO%3B2-E

retrieved

21 January 2018

Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria

1 reference

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reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199902%2919%3A2%3C108%3A%3AAID-PD476%3E3.0.CO%3B2-E

retrieved

21 January 2018

Phenotypic variation in biotinidase deficiency

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reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199902%2919%3A2%3C108%3A%3AAID-PD476%3E3.0.CO%3B2-E

retrieved

21 January 2018

Identifiers

DOI

10.1002/(SICI)1097-0223(199902)19:2<108::AID-PD476>3.0.CO;2-E

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PubMed publication ID

10215065

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(Q28373907)

Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency

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