PubMed

Cerebellar hemorrhage in a patient with propionic acidemia.

Velasco-Sánchez D, Gómez-Lopez L, Vilaseca MA, Serrano M, Massaguer S, Campistol J, García-Cazorla A.

Cerebellum. 2009 Sep;8(3):352-4. Epub 2009 May 26.PMID: 19468795 [PubMed - indexed for MEDLINE]Related articles

Acrodermatitis enteropathica-like eruption in metabolic disorders: acrodermatitis dysmetabolica is proposed as a better term.

Tabanlioğlu D, Ersoy-Evans S, Karaduman A.

Pediatr Dermatol. 2009 Mar-Apr;26(2):150-4. Epub 2009 Mar 11.PMID: 19419460 [PubMed - indexed for MEDLINE]Related articles

Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria.

de Keyzer Y, Valayannopoulos V, Benoist JF, Batteux F, Lacaille F, Hubert L, Chrétien D, Chadefeaux-Vekemans B, Niaudet P, Touati G, Munnich A, de Lonlay P.

Pediatr Res. 2009 Jul;66(1):91-5.PMID: 19342984 [PubMed - indexed for MEDLINE]Related articles

Late onset optic neuropathy in methylmalonic and propionic acidemia.

Williams ZR, Hurley PE, Altiparmak UE, Feldon SE, Arnold GL, Eggenberger E, Mejico LJ.

Am J Ophthalmol. 2009 May;147(5):929-33. Epub 2009 Feb 25.PMID: 19243738 [PubMed - indexed for MEDLINE]Related articles

High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.

Desviat LR, Sanchez-Alcudia R, Pérez B, Pérez-Cerdá C, Navarrete R, Vijzelaar R, Ugarte M.

Mol Genet Metab. 2009 Apr;96(4):171-6. Epub 2009 Jan 20.PMID: 19157943 [PubMed - indexed for MEDLINE]Related articles

Recurrent acute pancreatitis associated with propionic acidemia.

Bultron G, Seashore MR, Pashankar DS, Husain SZ.

J Pediatr Gastroenterol Nutr. 2008 Sep;47(3):370-1. No abstract available. PMID: 18728537 [PubMed - indexed for MEDLINE]Related articles

Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia.

Bustamante-Aragones A, Pérez-Cerdá C, Pérez B, de Alba MR, Ugarte M, Ramos C.

Mol Genet Metab. 2008 Sep-Oct;95(1-2):101-3. Epub 2008 Jul 2.PMID: 18599334 [PubMed - indexed for MEDLINE]Related articles

Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child.

Chang CY, Lin SP, Lin HY, Chuang CK, Ho CS, Hsu CH.

Acta Paediatr Taiwan. 2008 Jan-Feb;49(1):35-7.PMID: 18581728 [PubMed - indexed for MEDLINE]Related articles

Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS.

Inoue Y, Ohse M, Shinka T, Kuhara T.

J Chromatogr B Analyt Technol Biomed Life Sci. 2008 Jul 15;870(2):160-3. Epub 2008 Mar 4.PMID: 18343209 [PubMed - indexed for MEDLINE]Related articles

Neonatal non-ketotic hyperglycinemia: report of five cases.

Demirel N, Bas AY, Zenciroglu A, Aydemir C, Kalkanoglu S, Coskun T.

Pediatr Int. 2008 Feb;50(1):121-3. No abstract available. PMID: 18279221 [PubMed - indexed for MEDLINE]Related articles

Cardiac arrest secondary to long QT(C )in a child with propionic acidemia.

Jameson E, Walter J.

Pediatr Cardiol. 2008 Sep;29(5):969-70. Epub 2007 Dec 5.PMID: 18058159 [PubMed - indexed for MEDLINE]Related articles

Propionic acidemia manifesting with low isoleucine generalized exfoliative dermatosis.

Lane TN, Spraker MK, Parker SS.

Pediatr Dermatol. 2007 Sep-Oct;24(5):508-10.PMID: 17958798 [PubMed - indexed for MEDLINE]Related articles

Metabolomics identifies perturbations in human disorders of propionate metabolism.

Wikoff WR, Gangoiti JA, Barshop BA, Siuzdak G.

Clin Chem. 2007 Dec;53(12):2169-76. Epub 2007 Oct 19.PMID: 17951291 [PubMed - indexed for MEDLINE]Related articlesFree article

Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia.

Baumgartner D, Scholl-Bürgi S, Sass JO, Sperl W, Schweigmann U, Stein JI, Karall D.

J Pediatr. 2007 Feb;150(2):192-7, 197.e1.PMID: 17236900 [PubMed - indexed for MEDLINE]Related articles

Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening.

Tan ES, Wiley V, Carpenter K, Wilcken B.

Mol Genet Metab. 2007 Apr;90(4):446-8. Epub 2007 Jan 4.PMID: 17207649 [PubMed - indexed for MEDLINE]Related articles

Anesthetic management of a 2-year-old male with propionic acidemia.

Karagoz AH, Uzümcügil F, Celebi N, Canbay O, Ozgen S.

Paediatr Anaesth. 2006 Dec;16(12):1290-1. No abstract available. PMID: 17121564 [PubMed - indexed for MEDLINE]Related articles

New splicing mutations in propionic acidemia.

Desviat LR, Clavero S, Perez-Cerdá C, Navarrete R, Ugarte M, Perez B.

J Hum Genet. 2006;51(11):992-7. Epub 2006 Oct 19.PMID: 17051315 [PubMed - indexed for MEDLINE]Related articles

Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review.

Barshes NR, Vanatta JM, Patel AJ, Carter BA, O'Mahony CA, Karpen SJ, Goss JA.

Pediatr Transplant. 2006 Nov;10(7):773-81.PMID: 17032422 [PubMed - indexed for MEDLINE]Related articles

Metabolic changes associated with hyperammonemia in patients with propionic acidemia.

Filipowicz HR, Ernst SL, Ashurst CL, Pasquali M, Longo N.

Mol Genet Metab. 2006 Jun;88(2):123-30. Epub 2006 Jan 10.PMID: 16406646 [PubMed - indexed for MEDLINE]Related articles

Coincidence of long QT syndrome and propionic acidemia.

Kakavand B, Schroeder VA, Di Sessa TG.

Pediatr Cardiol. 2006 Jan-Feb;27(1):160-1.PMID: 16391987 [PubMed - indexed for MEDLINE]Related articles