PMC Links for Books (Select 2912446) - PMC

Select item 47529251.

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: Isolated methylmalonic acidemias (MMA)

Irini Manoli, Jennifer Myles, Jennifer L. Sloan, Oleg A. Shchelochkov, 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): 386–395. Published online 2015 Aug 13. doi: 10.1038/gim.2015.102

PMCID:: PMC4752925

Abstract Article PDF–543K

Select item 41803132.

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Daniela Karall, Kimberly A Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C Grünert, Stephanie Grünewald, Tomas Honzik, Begoña Merinero, Celia Pérez-Cerdá, Sabine Scholl-Bürgi, Flemming Skovby, Frits Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani

Orphanet J Rare Dis. 2014; 9: 130. Published online 2014 Sep 2. doi: 10.1186/s13023-014-0130-8

PMCID:: PMC4180313

Abstract Article PDF–2.6M

Select item 41339963.

Acute Management of Propionic Acidemia

Kimberly A Chapman, Andrea Gropman, Erin MacLeod, Kathy Stagni, Marshall L. Summar, Keiko Ueda, Nicholas Ah Mew, Jill Franks, Eddie Island, Dietrich Matern, Loren Pena, Brittany Smith, V. Reid Sutton, Tiina Urv, Charles Venditti, Anupam Chakrapani

Mol Genet Metab. Author manuscript; available in PMC 2014 Aug 15.

Published in final edited form as: Mol Genet Metab. 2012 Jan; 105(1): 16–25. Published online 2011 Sep 24. doi: 10.1016/j.ymgme.2011.09.026

PMCID:: PMC4133996

Abstract Article PDF–1.7M

Select item 40165034.

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

Mathilde Nizon, Chris Ottolenghi, Vassili Valayannopoulos, Jean-Baptiste Arnoux, Valérie Barbier, Florence Habarou, Isabelle Desguerre, Nathalie Boddaert, Jean-Paul Bonnefont, Cécile Acquaviva, Jean-François Benoist, Daniel Rabier, Guy Touati, Pascale de Lonlay

Orphanet J Rare Dis. 2013; 8: 148. Published online 2013 Sep 23. doi: 10.1186/1750-1172-8-148

PMCID:: PMC4016503

Abstract Article PDF–948K

Select item 39430595.

Propionic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder

Parvaneh KARIMZADEH, Narjes JAFARI, Farzad AHMAD ABADI, Sayena JABBEDARI, Mohammad-Mahdi TAGHDIRI, Mohammad-Reza ALAEE, Mohammad GHOFRANI, Seyed Hassan TONEKABONI, Habibeh NEJAD BIGLARI

Iran J Child Neurol. 2014 Winter; 8(1): 58–61.

PMCID:: PMC3943059

Abstract Article PDF–431K

Select item 39162766.

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates

Aisha Al-Shamsi, Jozef L. Hertecant, Sania Al-Hamad, Abdul-Kader Souid, Fatma Al-Jasmi

Sultan Qaboos Univ Med J. 2014 Feb; 14(1): e42–e49. Published online 2014 Jan 27. doi: 10.12816/0003335

PMCID:: PMC3916276

Abstract Article PDF–372K

Select item 38978027.

Chronic Kidney Disease in an Adult with Propionic Acidemia

H. J. Vernon, S. Bagnasco, A. Hamosh, C. J. Sperati

JIMD Rep. 2014; 12: 5–10. Published online 2013 Jun 12. doi: 10.1007/8904_2013_237

PMCID:: PMC3897802

Abstract Article PDF–436K

Select item 38977998.

Propionic Acidemia and Optic Neuropathy: A Report of Two Cases

Carolina Arias, Erna Raimann, Pilar Peredo, Juan Francisco Cabello, Gabriela Castro, Alf Valiente, Alicia de la Parra, Paulina Bravo, Cecilia Okuma, Verónica Cornejo

JIMD Rep. 2014; 12: 1–4. Published online 2013 Jul 2. doi: 10.1007/8904_2013_234

PMCID:: PMC3897799

Abstract Article PDF–256K

Select item 37777229.

Unusual Presentation of Propionic Acidemia as Isolated Cardiomyopathy

T. M. Lee, L. J. Addonizio, B. A. Barshop, W. K. Chung

J Inherit Metab Dis. Author manuscript; available in PMC 2013 Sep 19.

Published in final edited form as: J Inherit Metab Dis. 2009 Dec; 32(0 1): S97–101. Published online 2009 Feb 24. doi: 10.1007/s10545-009-1084-1

PMCID:: PMC3777722

Abstract Article PDF–545K

Select item 371024310.

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

Julien L Marcadier, Amanda M Smith, Daniela Pohl, Jeremy Schwartzentruber, Osama Y Al-Dirbashi, Jacek Majewski, Sacha Ferdinandusse, Ronald JA Wanders, Dennis E Bulman, Kym M Boycott, Pranesh Chakraborty, Michael T Geraghty

Orphanet J Rare Dis. 2013; 8: 98. Published online 2013 Jul 9. doi: 10.1186/1750-1172-8-98

PMCID:: PMC3710243

Abstract Article PDF–692K

Select item 348850411.

Johannes Häberle, Nathalie Boddaert, Alberto Burlina, Anupam Chakrapani, Marjorie Dixon, Martina Huemer, Daniela Karall, Diego Martinelli, Pablo Sanjurjo Crespo, René Santer, Aude Servais, Vassili Valayannopoulos, Martin Lindner, Vicente Rubio, Carlo Dionisi-Vici

Orphanet J Rare Dis. 2012; 7: 32. Published online 2012 May 29. doi: 10.1186/1750-1172-7-32

PMCID:: PMC3488504

Abstract Article PDF–899K

Select item 308266112.

Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia

Trinitat M. Alberola, Rosa Bautista-Llácer, Xavier Vendrell, Elena García-Mengual, Merche Pardo, Maria Vila, Carmen Calatayud

J Assist Reprod Genet. 2011 Mar; 28(3): 211–216. Published online 2010 Dec 3. doi: 10.1007/s10815-010-9514-4

PMCID:: PMC3082661

Abstract Article PDF–294K

Select item 292530713.

Crystal structure of the a₆ß₆ holoenzyme of propionyl-coenzyme A carboxylase

Christine S. Huang, Kianoush Sadre-Bazzaz, Yang Shen, Binbin Deng, Z. Hong Zhou, Liang Tong

Nature. Author manuscript; available in PMC 2011 Feb 1.

Published in final edited form as: Nature. 2010 Aug 19; 466(7309): 1001–1005. doi: 10.1038/nature09302

PMCID:: PMC2925307

Abstract Article PDF–1.3M

Select item 171821314.

Effect of oral antibiotics on intestinal production of propionic acid

A Mellon, S Deshpande, J Mathers, K Bartlett

Arch Dis Child. 2000 Feb; 82(2): 169–172. doi: 10.1136/adc.82.2.169

PMCID:: PMC1718213

Summary PDF–106K

Select item 128707815.

High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA Carboxylase

Kirstine Ravn, Maja Chloupkova, Ernst Christensen, Niels Jacob Brandt, Henrik Simonsen, Jan P. Kraus, Inge Merete Nielsen, Flemming Skovby, Marianne Schwartz

Am J Hum Genet. 2000 Jul; 67(1): 203–206. Published online 2000 May 16. doi: 10.1086/302971

PMCID:: PMC1287078

Abstract Article PDF–362K

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