Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.

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Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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Medium-chain acyl-CoA dehydrog ...... in a retrospective screening.

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Medium-chain acyl-CoA dehydrog ...... in a retrospective screening.

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Medium-chain acyl-CoA dehydrog ...... in a retrospective screening.

@en

Medium-chain acyl-CoA dehydrog ...... in a retrospective screening.

@nl

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Medium-chain acyl-CoA dehydrog ...... in a retrospective screening.

@en

Medium-chain acyl-CoA dehydrog ...... in a retrospective screening.

@nl

P1476

Medium-chain acyl-CoA dehydrog ...... in a retrospective screening.

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P2093

Andraz Smon

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Barbka Repic Lampret

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Marusa Debeljak

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Mojca Zerjav Tansek

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Sara Bertok

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Urh Groselj

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P2860

Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

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Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

Fasting medium chain acyl-coenzyme A dehydrogenase--deficient children can make ketones.

Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.

Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency.

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.

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1339-1348

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scholarly article

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10.1177/0300060517734123

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P433

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P478

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Magdalena Avbelj Stefanija

Katarina Trebusak Podkrajsek

Tadej Battelino

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2018-01-01T00:00:00Z

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P698

29350094

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P921

medium chain acyl-CoA dehydrogenase deficiency

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6091831

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