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Research article

First published 2006-02

Biomarker Discovery,Disease Classification,and Similarity Query Processing on High-Throughput MS/MS Data of Inborn Errors of Metabolism

Christian Baumgartner, Daniela Baumgartner

Journal of Biomolecular Screening

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Book review

First published 1993-3

Book Review: Inborn Metabolic Diseases. Diagnosis and Treatment

M A Preece

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Meeting report

First published 1971-3

Inborn Errors of Metabolism in Neurology (Wilson's Disease,Refsum's Disease and Lipidoses)

J N Cumings

Journal of the Royal Society of Medicine

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Research article

First published 2022-6

A Study of Sick Newborn for Inborn Error of Metabolism by Tandem Mass Spectrometry

Rahul Bhautara, Kamlesh Kumar Agarwal, Ashok Gupta [...]

Journal of Neonatology

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Case report

First published 2005-10

Glutaric Aciduria Type II: A Case Report

S. Domizio, A. Romanelli, P. Brindisino [...]

International Journal of Immunopathology and Pharmacology

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Research article

First published 1977-1

Enzyme Measurements of Hair Follicles in the Study of Some Inborn Errors of Metabolism,with Particular Reference to Hurler's Disease

Dorothy A. Gibbs

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Open access

Research article

First published 2018-12-20

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium

Nicholas Ah Mew, Avital Cnaan, Robert McCarter [...]

Translational Science of Rare Diseases

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Research article

First published 2012-10

Infantile Spasms (West Syndrome) in Children With Inborn Errors of Metabolism

Anastasia Gkampeta, Evangelos Pavlou

Journal of Child Neurology

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Research article

First published 2021-9

Incidence of inborn errors of metabolism detected by tandem mass spectrometry in China: A census of over seven million newborns between 2016 and 2017

Kui Deng, Jun Zhu, Erling Yu [...]

Journal of Medical Screening

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Other

First published 1998-7

Histopathologic Approach to Metabolic Liver Disease: Part 2

Gareth P. Jevon, James E. Dimmick

Pediatric and Developmental Pathology

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