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■ Abbreviation / Long Form : PA / propionic acidemia

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Total Number of Papers: 155
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Abbreviation:   PA  (>> Co-occurring Abbreviation)
Long Form:   propionic acidemia
 Abbreviation Variation
 Long Form Variation
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No. Year Title Co-occurring Abbreviation
2019 Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience. APOLT, CIT1, CN-1, DQ, MLD
2019 Clinical Application of LC-MS/MS in the Follow-Up for Treatment of Children with Methylmalonic Aciduria. GC/MS, Hcy, MCA, MMA
2019 Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment. ASLD, ASS-D, BCAA, CPS1-D, HHH, MMA, OTCD, UCD
2019 Demethylation of the hypoxia induction factor 1 binding site of GPX3 at excess blood ammonia in propionic acidemia. CpG, GPX3, HIF-1alpha, ROS
2019 Detecting Graft-Derived Cell-Free DNA Through Amplification Refractory Mutation System Polymerase Chain Reaction in Living-Donor Liver Transplantation: Report of 2 Cases. ARMS-PCR, Gcf-DNA, LDLT
2019 Dietary Management of Propionic Acidemia: Parent Caregiver Perspectives and Practices. ---
2019 Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry. CPS1-D, HHH, MMA, OAD, OTC-D, RDA, UCD
2019 Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups. LT, MMA
2019 Minimally Invasive Treatment of Metabolic Decompensation Due to Portal Steal in Auxiliary Liver Transplantation. LT
10  2019 Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia. PCC
11  2018 A Novel PCCA Mutation in a Patient With Late-Onset Propionic Acidemia Identified by Genetic Diagnosis Panel. DBS, MS/MS, PCC
12  2018 Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias. FGF-21, IVA, MMA
13  2018 Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations. PCC
14  2018 Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes. LT, MMA
15  2018 Long-term liver disease in methylmalonic and propionic acidemias. alpha-FP, MMA
16  2018 Long-term outcomes in Amish patients diagnosed with propionic acidemia. ---
17  2018 Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism. OXPHOS, PCC, TCA
18  2018 Reply. HAT, LDLT, LT
19  2018 The Role of Liver Transplantation in Propionic Acidemia. LT
20  2018 The Role of Liver Transplantation in Propionic Acidemia. LT
21  2017 Antenatal nephromegaly and propionic acidemia: a case report. ---
22  2017 Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome. IEM, Mean SE, OA
23  2017 Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation. IBEM-IS, NBS
24  2017 Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia. CoA, CVs
25  2017 Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population. MSUD
26  2017 Dietary practices in propionic acidemia: A European survey. PFAA
27  2017 Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia. ---
28  2017 Long QT syndrome diagnosed in two sisters with propionic acidemia: a case report. LQTS, PCC
29  2017 Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria. MCE, MCEE, MMA
30  2017 Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias. GA-I, IVA, MMACBL, NBS
31  2017 Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders. DBS, MMACBL
32  2017 Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia. ---
33  2016 Anaesthetic considerations for liver transplantation in propionic acidemia. PCC
34  2016 Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study. IVA, MMA, NAG, OAs
35  2016 Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria. MMA, NCG
36  2016 Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy. HLH
37  2016 In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder. ---
38  2016 Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias. BCOA, MMA, MSUD
39  2016 Optic neuropathy in methylmalonic acidemia and propionic acidemia. MMA, ON
40  2016 Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactation. ---
41  2016 Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes. ---
42  2016 Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes. PCCA, PCCB
43  2016 Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community. ---
44  2016 The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better? IVA, MMA, OA
45  2016 Towards the development of an enzyme replacement therapy for the metabolic disorder propionic acidemia. CPPs, MTS, PCC, PP-CoA
46  2015 A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing. ---
47  2015 An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand. ICER, IEM, IVA, LYs, MCD, MMA, MS/MS, MSUD, PKU, PPP, QALYs, THB
48  2015 Cost-effectiveness of liver transplantation in methylmalonic and propionic acidemias. LT, MMA, QALYs
49  2015 Early and late complications after liver transplantation for propionic acidemia in children: a two centers study. LT
50  2015 Gene expression in cell lines from propionic acidemia patients, carrier parents, and controls. LCLs
51  2015 Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias. DBSs, LCHADD, MMA, NBS, TFP
52  2015 Intermediaries of branched chain amino acid metabolism induce fetal hemoglobin, and repress SOX6 and BCL11A, in definitive erythroid cells. BCAA, IVA, MMA, MSUD
53  2015 Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectors. AAV8
54  2015 Propionic acidemia in the Arab World. PCC
55  2015 The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. GA1, MMA, OAD, OTC, UCD
56  2015 The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. ASL, GA1, IVA, MMA, OAD, UCD
57  2015 [Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia]. ---
58  2014 Analysis of methylcitrate in dried blood spots by liquid chromatography-tandem mass spectrometry. Cbl, DAABD-AE, DBS, MCA, MMA
59  2014 Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts. PCC
60  2014 Chronic kidney disease in an adult with propionic acidemia. DTPA
61  2014 Clinical characteristics and mutation analysis of propionic acidemia in Thailand. ---
62  2014 Effects of adeno-associated virus serotype and tissue-specific expression on circulating biomarkers of propionic acidemia. AAV, PCC, TTR
63  2014 Emerging trends in management of propionic acidemia. ---
64  2014 Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. DCM, PCC
65  2014 Severe renal failure and hyperammonemia in a newborn with propionic acidemia: effects of treatment on the clinical course. PCC
66  2014 Successful reversal of propionic acidaemia associated cardiomyopathy: evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism. CoQ10, RC
67  2014 Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia. ---
68  2013 Autism spectrum disorder in a child with propionic acidemia. ---
69  2013 Biochemical basis of heterogeneity in acute presentations of propionic acidemia. ---
70  2013 Clinical features and management of organic acidemias in Japan. MMA, OAs
71  2013 Clinical spectrum of propionic acidaemia. ---
72  2013 Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia. PCC, ROS
73  2013 Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing. AAV8, Ad5, PCC
74  2013 Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation. LDLT
75  2013 Intractable metabolic acidosis in a child with propionic acidemia undergoing liver transplantation -a case report-. ---
76  2013 Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. 3HP, IVA, MMA
77  2013 Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia. ---
78  2012 Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects. IBDD, IVA, MBDD, MMA, MSUD, OKG
79  2012 Amino acid metabolism in patients with propionic acidaemia. BCAAs
80  2012 Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia. PCC, PTC
81  2012 Neurologic considerations in propionic acidemia. ---
82  2012 Propionic acidemia: neonatal versus selective metabolic screening. IQ, NBS, SMS
83  2012 Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients. MMA, NCG
84  2012 Survey of health status and complications among propionic acidemia patients. ---
85  2012 [Juvenile glaucoma in propionic acidemia]. ---
86  2011 Adeno-associated virus serotype 8 gene transfer rescues a neonatal lethal murine model of propionic acidemia. AAV, PCC
87  2011 Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia. OXPHOS
88  2011 Liver transplantation for propionic acidemia in children. LT
89  2011 MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation. MRS
90  2011 Quantitative liquid chromatography coupled with tandem mass spectrometry analysis of urinary acylglycines: application to the diagnosis of inborn errors of metabolism. BKTD, IBDHD, IVA, MADD, MCADD, MRM, SBCAD
91  2010 Cardiomyopathies in propionic aciduria are reversible after liver transplantation. OLT
92  2010 Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia. ---
93  2010 Delayed enhancement cardiac magnetic resonance imaging in propionic acidemia. DECM
94  2010 N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia. NCG
95  2010 Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. cblC, DBS, MMA, NBS
96  2010 Outpatient treatment of propionic acidemia-associated hyperammonemia with N-carbamoyl-L-glutamate in an infant. ---
97  2010 The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. MMAuria
98  2009 Epilepsy in patients with propionic acidemia. AED
99  2009 Extracorporeal membrane oxygenation in a patient with propionic acidaemia: a therapeutic option for cardiac failure. ECMO
100  2009 High frequency of large genomic deletions in the PCCA gene causing propionic acidemia. MLPA