PMC Links for Books (Select 1472484) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Select item 74972892.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 61404203.

Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population

Ernie Zuraida Ali, Lock-Hock Ngu

Mol Genet Metab Rep. 2018 Dec; 17: 22–30. Published online 2018 Sep 13. doi: 10.1016/j.ymgmr.2018.08.006

PMCID:: PMC6140420

Abstract Article PDF–1.9M

Select item 60419934.

Recurrent Encephalopathy During Febrile Illnesses in a 6-Year-Old Boy

Eliza Szuch, Jeanna Auriemma

Glob Pediatr Health. 2018; 5: 2333794X18784203. Published online 2018 Jul 10. doi: 10.1177/2333794X18784203

PMCID:: PMC6041993

Abstract Article PDF–289K

Select item 47529125.

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: Cobalamin C deficiency (cblC).

Irini Manoli, Jennifer G. Myles, Jennifer L. Sloan, Nuria Carrillo-Carrasco, Eva Morava, Kevin A. Strauss, Holmes Morton, Charles P. Venditti

Genet Med. Author manuscript; available in PMC 2016 May 18.

Published in final edited form as: Genet Med. 2016 Apr; 18(4): 396–404. Published online 2015 Aug 13. doi: 10.1038/gim.2015.107

PMCID:: PMC4752912

Abstract Article PDF–307K

Select item 45447536.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 42352487.

Movement Disorders in Adult Surviving Patients with Maple Syrup Urine Disease

Miryam Carecchio, Susanne A. Schneider, Heidi Chan, Robin Lachmann, Philip J. Lee, Elaine Murphy, Kailash P. Bhatia

Mov Disord. Author manuscript; available in PMC 2014 Nov 18.

Published in final edited form as: Mov Disord. 2011 Jun; 26(7): 1324–1328. Published online 2011 Apr 11. doi: 10.1002/mds.23629

PMCID:: PMC4235248

Abstract Article PDF–132K

Select item 37041658.

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Gaia Novarino, Paul El-Fishawy, Hulya Kayserili, Nagwa A. Meguid, Eric M. Scott, Jana Schroth, Jennifer L. Silhavy, Majdi Kara, Rehab O. Khalil, Tawfeg Ben-Omran, A. Gulhan Ercan-Sencicek, Adel F. Hashish, Stephan J. Sanders, Abha R. Gupta, Hebatalla S. Hashem, Dietrich Matern, Stacey Gabriel, Larry Sweetman, Yasmeen Rahimi, Robert A. Harris, Matthew W. State, Joseph G. Gleeson

Science. Author manuscript; available in PMC 2013 Jul 8.

Published in final edited form as: Science. 2012 Oct 19; 338(6105): 394–397. Published online 2012 Sep 6. doi: 10.1126/science.1224631

PMCID:: PMC3704165

Abstract Article PDF–1.6M

Select item 36719259.

Classical maple syrup urine disease and brain development: Principles of management and formula design

Kevin A. Strauss, Bridget Wardley, Donna Robinson, Christine Hendrickson, Nicholas L. Rider, Erik G. Puffenberger, Diana Shelmer, Ann B. Moser, D. Holmes Morton

Mol Genet Metab. Author manuscript; available in PMC 2013 Jun 4.

Published in final edited form as: Mol Genet Metab. 2010 Apr; 99(4): 333–345. Published online 2010 Jan 12. doi: 10.1016/j.ymgme.2009.12.007

Correction in:: volume 103 on page 202

PMCID:: PMC3671925

Abstract Article PDF–2.7M

Select item 367192310.

Liver Transplantation for Classical Maple Syrup Urine Disease: Long-Term Follow-Up in 37 Patients and Comparative United Network for Organ Sharing Experience

George V. Mazariegos, D. Holmes Morton, Rakesh Sindhi, Kyle Soltys, Navdeep Nayyar, Geoffrey Bond, Diana Shellmer, Benjamin Shneider, Jerry Vockley, Kevin A. Strauss

J Pediatr. Author manuscript; available in PMC 2013 Jun 4.

Published in final edited form as: J Pediatr. 2012 Jan; 160(1): 116–21.e1. Published online 2011 Aug 11. doi: 10.1016/j.jpeds.2011.06.033

PMCID:: PMC3671923

Abstract Article PDF–2.3M

Select item 361393211.

Biochemical correlates of neuropsychiatric illness in maple syrup urine disease

Emilie R. Muelly, Gregory J. Moore, Scott C. Bunce, Julie Mack, Don C. Bigler, D. Holmes Morton, Kevin A. Strauss

J Clin Invest. 2013 Apr 1; 123(4): 1809–1820. Published online 2013 Mar 8. doi: 10.1172/JCI67217

PMCID:: PMC3613932

Abstract Article PDF–1.6M

Select item 347799412.

One Community’s Effort to Control Genetic Disease

Kevin A. Strauss, Erik G. Puffenberger, D. Holmes Morton

Am J Public Health. 2012 Jul; 102(7): 1300–1306. Published online 2012 Jul. doi: 10.2105/AJPH.2011.300569

PMCID:: PMC3477994

Abstract Article PDF–1.5M

Select item 305064713.

Cognitive and Adaptive Functioning after Liver Transplantation for Maple Syrup Urine Disease: A Case Series

D. A. Shellmer, A. DeVito Dabbs, M. A. Dew, R. B. Noll, H. Feldman, K. Strauss, D. H. Morton, G. Vockley, G. V. Mazariegos

Pediatr Transplant. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Pediatr Transplant. 2011 Feb; 15(1): 58–64. Published online 2010 Oct 8. doi: 10.1111/j.1399-3046.2010.01411.x

PMCID:: PMC3050647

Abstract Article PDF–772K

Select item 302404014.

Phenylbutyrate therapy for maple syrup urine disease

Nicola Brunetti-Pierri, Brendan Lanpher, Ayelet Erez, Elitsa A. Ananieva, Mohammad Islam, Juan C. Marini, Qin Sun, Chunli Yu, Madhuri Hegde, Jun Li, R. Max Wynn, David T. Chuang, Susan Hutson, Brendan Lee

Hum Mol Genet. 2011 Feb 15; 20(4): 631–640. Published online 2010 Nov 23. doi: 10.1093/hmg/ddq507

PMCID:: PMC3024040

Abstract Article PDF–279K

Select item 266894415.

Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease

William J. Zinnanti, Jelena Lazovic, Kathleen Griffin, Kristen J. Skvorak, Harbhajan S. Paul, Gregg E. Homanics, Maria C. Bewley, Keith C. Cheng, Kathryn F. LaNoue, John M. Flanagan

Brain. 2009 Apr; 132(4): 903–918. Published online 2009 Mar 17. doi: 10.1093/brain/awp024

PMCID:: PMC2668944

Abstract Article PDF–2.3M

Select item 168329016.

Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.

C R Fisher, C W Fisher, D T Chuang, R P Cox

Am J Hum Genet. 1991 Aug; 49(2): 429–434.

PMCID:: PMC1683290

Summary Page Browse PDF–1.1M

Select item 122607117.

Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population

Lisa Edelmann, Melissa P. Wasserstein, Ruth Kornreich, Claude Sansaricq, Selma E. Snyderman, George A. Diaz

Am J Hum Genet. 2001 Oct; 69(4): 863–868. Published online 2001 Aug 16. doi: 10.1086/323677

PMCID:: PMC1226071

Abstract Article PDF–256K

Select item 29249218.

Body Composition in Severe Infantile Malnutrition

J. S. Garrow, K. Fletcher, D. Halliday

J Clin Invest. 1965 Mar; 44(3): 417–425. doi: 10.1172/JCI105155

PMCID:: PMC292492

Summary Page Browse PDF–1.4M

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