AngelikaLudtke(Ludtke)ErwinMDPhD

PubMed

• Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples.
  Akshata Moghe, Amy Dickey, Angelika Erwin, Rebecca K Leaf, Alan O'Brien, John G Quigley, Manish Thapar, Karl E Anderson> ;Molecular Genetics and Metabolism. 2023 Nov 1
• 1 citations
  Evidence-based consensus guidelines for the diagnosis and management of protoporphyria-related liver dysfunction in erythropoietic protoporphyria and X-linked protopor...
  Cynthia Levy, Amy K Dickey, Bruce Wang, Manish Thapar, Hetanshi Naik, Siobán B Keel, Behnam Saberi, Simon W Beaven, Sean R Rudnick, Sarina B Elmariah, Angelika L Erwin...> ;Hepatology. 2024 Mar 1
• 7 citations
  Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of ...
  Jeffrey S Dungan, Susan Klugman, Sandra Darilek, Jennifer Malinowski, Yassmine M N Akkari, Kristin G Monaghan, Angelika Erwin, Robert G Best> ;Genetics in Medicine. 2023 Aug 1
• 41 citations
  Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of ...
  Jeffrey S Dungan, Susan Klugman, Sandra Darilek, Jennifer Malinowski, Yassmine M N Akkari, Kristin G Monaghan, Angelika Erwin, Robert G Best> ;Genetics in Medicine. 2023 Feb 1
• 1 citations
  Prevalence of Undiagnosed Acute Hepatic Porphyria in Cyclic Vomiting Syndrome and Overlap in Clinical Symptoms.
  Shanna Cheng, Elliot Yu, Zhuping Garacci, Angelika L Erwin, Thangam Venkatesan> ;Digestive Diseases and Sciences. 2023 May 1
• 5 citations
  Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria.
  Amy K Dickey, Hetanshi Naik, Siobán B Keel, Cynthia Levy, Simon W Beaven, Sarina B Elmariah, Angelika L Erwin, Robert J Goddu, Karli Hedstrom, Rebecca K Leaf, Mohamed ...> ;Journal of the American Academy of Dermatology. 2023 Dec 1
• 2 citations
  Expanding the phenotypic spectrum of ARCN1-related syndrome.
  Ritter, A., Gold, J., Hayashi, H., Ackermann, A., Hanke, S., Skraban, C., Cuddapah, S., Bhoj, E., Li, D., Kuroda, Y., Wen, J., Takeda, R., Bibb, A., El Chehadeh, S., P...> ;Genetics in Medicine. 2022 Jun 1
• 7 citations
  Porphyrias in the Age of Targeted Therapies.
  Angelika L. Erwin, Manisha Balwani> ;Diagnostics. 2021 Sep 29
• 25 citations
  TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
  Geeske M. van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Natasha Shur, Kristin W. Barañano, Sonal Mahida, Anna Chassevent, Allis...> ;Human Mutation. 2021 Feb 10
• 2 citations
  Higher iron stores and the HFE 187C>G variant delay onset of peripheral neuropathy during combination antiretroviral therapy.
  Asha R. Kallianpur, Wanqing Wen, Angelika L Erwin, David B. Clifford, Todd Hulgan, Gregory K. Robbins> ;Plos One. 2020 Oct 15
• 25 citations
  Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium.
  Behnam Saberi, Hetanshi Naik, Jessica Overbey, Angelika Erwin, Karl E. Anderson, D. Montgomery Bissell, Herbert L. Bonkovsky, John D. Phillips, Bruce Wang, Ashwani K. ...> ;Hepatology. 2021 May 1
• 9 citations
  Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria.
  Hetanshi Naik, Jessica Overbey, Guy H. Montgomery, Gary Winkel, Manisha Balwani, Karl E. Anderson, D. Montgomery Bissell, Herbert L. Bonkovsky, John D. Phillips, Bruce...> ;Genetics in Medicine. 2020 Mar 1
• 23 citations
  Pharmacogenomics: An evolving clinical tool for precision medicine.
  Jennifer Hockings, Amy L. Pasternak, Angelika L. Erwin, Neil Thomas Mason, Charis Eng, J. Kevin Hicks> ;Cleveland Clinic Journal of Medicine. 2020 Feb 1
• Corrigendum to "Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features".
  Jacquelyn D. Riley, Catherine M. Stefaniuk, Francine Erenberg, Angelika Erwin, Lauren Palange, Caroline Astbury> ;Case Reports in Genetics. 2019 Nov 24
• 36 citations
  Congenital erythropoietic porphyria: Recent advances.
  Angelika Erwin, Robert J. Desnick> ;Molecular Genetics and Metabolism. 2019 Nov 1
• 2 citations
  Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features.
  Jacquelyn D. Riley, Catherine M. Stefaniuk, Francine Erenberg, Angelika Erwin, Lauren Palange, Caroline Astbury> ;Case Reports in Genetics. 2019 Jul 25
• 17 citations
  De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmo...
  Ganka Douglas, Megan T. Cho, Aida Telegrafi, Susan Winter, Jason Carmichael, Elaine H. Zackai, Matthew A. Deardorff, Margaret Harr, Linford Williams, Apostolos Psychog...> ;American Journal of Medical Genetics. Part A. 2018 Sep 1
• 14 citations
  Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.
  Brenden Chen, Constanza Solis-Villa, Angelika Erwin, Manisha Balwani, Irina Nazarenko, John D. Phillips, Robert J. Desnick, Makiko Yasuda> ;Journal of Inherited Metabolic Disease. 2018 Mar 28
• 10 citations
  Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care
  J. Kevin Hicks, Amy Shealy, Allison Schreiber, Marissa Coleridge, Ryan Noss, Marvin R. Natowicz, Rocio Moran, Timothy J. Moss, Angelika Erwin, Charis Eng> ;Clinical and Translational Science. 2018 Jan 1
• 14 citations
  The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency
  Angelika Erwin> ;Therapeutic Advances in Gastroenterology. 2017 Apr 26
• 77 citations
  Implementation of Clinical Pharmacogenomics within a Large Health System: From Electronic Health Record Decision Support to Consultation Services
  J. Kevin Hicks, David Stowe, Marc A. Willner, Maya Wai, Thomas M. Daly, Steven M. Gordon, Bret A. Lashner, Sumit Parikh, Robert White, Kathryn Teng, Timothy J. Moss, A...> ;Pharmacotherapy. 2016 Aug 1
• 29 citations
  PNPLA3 as a Genetic Determinant of Risk for and Severity of Non-alcoholic Fatty Liver Disease Spectrum.
  Habeeb Salameh, Muhannad Al Hanayneh, Maen Masadeh, Mohammed Naseemuddin, Tasnia Matin, Angelika Erwin, Ashwani K. Singal> ;Journal of Clinical and Translational Hepatology. 2016 Jul 8
• 37 citations
  Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network
  Carlos J. Gallego, Amber A. Burt, Agnes S. Sundaresan, Zi Ye, Christopher G. Shaw, David R. Crosslin, Paul K. Crane, S. Malia Fullerton, Kris Hansen, David Carrell, He...> ;American Journal of Human Genetics. 2015 Oct 1
• 2 citations
  Corrigendum: PNPLA3 Gene Polymorphism Is Associated With Predisposition to and Severity of Alcoholic Liver Disease
  Habeeb Salameh, Evan Raff, Angelika Erwin, Devanshi Seth, Hans Dieter Nischalke, Edmondo Falleti, Maria Antonella Burza, Julian Leathert, Stefano Romeo, Antonio Molina...> ;The American Journal of Gastroenterology. 2015 Jul 1
• 36 citations
  Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver
  Makiko Yasuda, Angelika Erwin, Lawrence U Liu, Manisha Balwani, Brenden Chen, Senkottuvelan Kadirvel, Lin Gan, M. Isabel Fiel, Ronald E. Gordon, Chunli Yu, Sonia Clave...> ;Molecular Medicine. 2015 Jun 5
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Journal Articles

• De Novo Missense Variants in MEIS2 Recapitulate the Microdeletion Phenotype of Cardiac and Palate Abnormalities, Developmental Delay, Intellectual Disability and Dysmo...  
  Theresa Grebe, Susan Winter, Elaine H Zackai, Angelika L Erwin, Matthew A Deardorff, Margaret Harr, American Journal of Medical Genetics Part A
• Congenital Erythropoietic Porphyria.  
  Erwin A., Balwani M., Desnick R.J., GeneReviews™, 2013
• Thiazolidinedione Response in Familial Lipodystrophy Patients with LMNA Mutations: A Case Series.  
  Luedtke A, Boschmann M, Colpe C, Engeli S, Adams F, Birkenfeld AL, Haufe S, Rahn G, Luft FC, Schmidt HH, Jordan J., Hormone and Metabolic Research, 2012