Curtis R. Coughlin

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Feasibility of Newborn Screening for Pyridoxine-Dependent Epilepsy

Kristine Pauly,Michael Woontner,Jose E. Abdenur,Bimal P. Chaudhari,Rachel Gosselin,Kimberly A. Kripps,Janet A. Thomas,Michael F. Wempe, Sidney M. Gospe Jr,Curtis R. Coughlin Ii

MOLECULAR GENETICS AND METABOLISMno. 1 (2025)

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Lysine Reduction Therapy Improves Neurocognitive Outcomes in Pyridoxine-Dependent Epilepsy

Clara van Karnebeek,Laura Tseng,Levinus Bok,Hans Hartmann, Sidney Gospe,Curtis Coughlin

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 432-433

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Dietary Management for Pyridoxine‐dependent Epilepsy Due to Α‐aminoadipic Semialdehyde Dehydrogenase Deficiency, a Follow‐on from the International Consortium Guidelines

Marjorie Dixon,Chloe Millington,Laurie Bernstein,Curtis R. Coughlin II,Morgan Drumm,Sommer Gaughan,Clara D. M. van Karnebeek,Annemiek M. J. van Wegberg

JIMD REPORTSno. 3 (2024): 188-203

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Assessment of Urinary 6-Oxo-pipecolic Acid As a Biomarker for ALDH7A1 Deficiency

Youssef Khalil,Emma Footitt, Reddy Vootukuri,Michael F. Wempe,Curtis R. Coughlin,Spyros Batzios,Matthew P. Wilson,Viktor Kozich,Peter T. Clayton,Philippa B. Mills

Journal of inherited metabolic diseaseno. 1 (2024): e12783-e12783

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Is It Time to Start to Consider Treating the Liver in Glutaric Aciduria Type 1

Sander Houten,Curtis R. R. Coughlin II

JOURNAL OF INHERITED METABOLIC DISEASE（2023）

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Pyridoxine‐dependent Epilepsy: Current Perspectives and Questions for Future Research

Curtis R. Coughlin II,Sidney M. Gospe Jr.

Annals of the Child Neurology Societyno. 1 (2023): 24-37

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Defining Critical Educational Components of Informed Consent for Genetic Testing: Views of US-based Genetic Counselors and Medical Geneticists

Miranda L. G. Hallquist,Maia J. Borensztein,Curtis R. Coughlin II,Adam H. Buchanan,W. Andrew Faucett,Holly L. Peay,Maureen E. Smith,Eric P. Tricou,Wendy R. Uhlmann,Karen E. Wain,Kelly E. Ormond

European Journal of Human Genetics（2023）

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Timing of Therapy and Neurodevelopmental Outcomes in 18 Families with Pyridoxine-Dependent Epilepsy

Laura A. Tseng,Jose E. Abdenur,Ashley Andrews,Verena G. Aziz,Levinus A. Bok,Monica Boyer,Daniela Buhas,Hans Hartmann,Emma J. Footitt,Sabine Gronborg,Mirian C. H. Janssen,Nicola Longo,Roelineke J. Lunsing, Alex E. MacKenzie,Frits A. Wijburg,Sidney M. Gospe,Curtis R. Coughlin,Clara D. M. van Karnebeek

Molecular Genetics and Metabolismno. 4 (2022): 350-356

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Fatty Acid Oxidation Disorders

Curtis R. Coughlin

Nutrition Management of Inherited Metabolic Diseasespp.309-323, (2022)

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Clinical Reasoning: Pediatric Seizures of Unknown Cause

Laura A. Tseng,Eva M. M. Hoytema van Konijnenburg,Nicola Longo,Ashley Andrews,Annemiek van Wegberg,Karlien L. M. Coene,Curtis R. Coughlin,Clara D. M. van Karnebeek

Neurology（2022）

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论文共 94 篇作者统计合作学者相似作者