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■ Abbreviation / Long Form : PA / propionic acidemia

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Total Number of Papers: 180
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Abbreviation:   PA  (>> Co-occurring Abbreviation)
Long Form:   propionic acidemia
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No. Year Title Co-occurring Abbreviation
2020 Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes. MCA, MMA, MMCoA, P-CoA, TCA
2020 Cardiac phenotype in propionic acidemia - Results of an observational monocentric study. ---
2020 Cardiometabolic risk factor clustering in patients with deficient branched-chain amino acid catabolism: A case-control study. BCAAs, IR, IVA, MMA, OAs
2020 Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia. ---
2020 Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia. GC-MS, MS/MS, PCC
2020 Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia. MLPA, PCC
2020 High prevalence of self-reported autism spectrum disorder in the Propionic Acidemia Registry. ASD, PPA
2020 Impaired lipolysis in propionic acidemia: A new metabolic myopathy? ---
2020 Intracellular calcium mishandling leads to cardiac dysfunction and ventricular arrhythmias in a mouse model of propionic acidemia. SERCA2a, SR
10  2020 Liver Transplantation for Propionic Acidemia: A Multicenter-linked Database Analysis. LT
11  2020 Liver Transplantation in Children With Propionic Acidemia: Medium-Term Outcomes. LT, MDs
12  2020 Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy. beta-MHC, miRNAs, mTOR, PCC
13  2020 Post-transplantation Outcomes in Patients with PA or MMA: A Review of the Literature. HAT, MMA
14  2020 Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening? AMD, MMA, NBS
15  2020 Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach. AMD, BCAA, MMA
16  2019 Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience. APOLT, CIT1, CN-1, DQ, MLD
17  2019 Chronic kidney disease in propionic acidemia. CKD, eGFR
18  2019 Clinical Application of LC-MS/MS in the Follow-Up for Treatment of Children with Methylmalonic Aciduria. GC/MS, Hcy, MCA, MMA
19  2019 Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations. PCC
20  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
21  2019 Demethylation of the hypoxia induction factor 1 binding site of GPX3 at excess blood ammonia in propionic acidemia. CpG, GPX3, HIF-1alpha, ROS
22  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
23  2019 Dietary Management of Propionic Acidemia: Parent Caregiver Perspectives and Practices. ---
24  2019 Domino liver transplantation for select metabolic disorders: Expanding the living donor pool. CN, CPSD, DLT, MSUD
25  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
26  2019 Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial. KAIMRC, MMA, NAGS, SFDA
27  2019 Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant. ---
28  2019 Liver Transplantation for Propionic Acidemia: A Multi-center Linked Database Analysis. LT
29  2019 Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review. KT, LT, MMA
30  2019 Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups. LT, MMA
31  2019 Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report. MMA, MMA
32  2019 Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism. CBS, MMA, MPST, MUT, PCC
33  2019 Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications. MMA
34  2019 Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies. MMA
35  2019 Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child. ---
36  2019 Rhabdomyolysis in organic acidemia patients manifesting with metabolic decompensation. CHDF, MMA
37  2019 Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia. PCC
38  2018 A Novel PCCA Mutation in a Patient With Late-Onset Propionic Acidemia Identified by Genetic Diagnosis Panel. DBS, MS/MS, PCC
39  2018 Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias. FGF21, IVA, MMA
40  2018 Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations. PCC
41  2018 Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes. LT, MMA
42  2018 Long-term liver disease in methylmalonic and propionic acidemias. alpha-FP, MMA
43  2018 Long-term outcomes in Amish patients diagnosed with propionic acidemia. ---
44  2018 Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism. OXPHOS, PCC, TCA
45  2018 The Role of Liver Transplantation in Propionic Acidemia. LT
46  2017 Antenatal nephromegaly and propionic acidemia: a case report. ---
47  2017 Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome. IEM, Mean SE, OA
48  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
49  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
50  2017 Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population. MSUD
51  2017 Dietary practices in propionic acidemia: A European survey. PFAA
52  2017 Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia. ---
53  2017 Long QT syndrome diagnosed in two sisters with propionic acidemia: a case report. LQTS, PCC
54  2017 Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria. MCE, MCEE, MMA
55  2017 Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias. GA I, IVA, MMACBL, NBS
56  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
57  2017 Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia. ---
58  2016 Anaesthetic considerations for liver transplantation in propionic acidemia. PCC
59  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
60  2016 Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria. MMA, NCG
61  2016 Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy. HLH
62  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. ---
63  2016 Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias. BCOA, MMA, MSUD
64  2016 Optic neuropathy in methylmalonic acidemia and propionic acidemia. MMA, ON
65  2016 Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactation. ---
66  2016 Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes. ---
67  2016 Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes. PCCA, PCCB
68  2016 Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community. ---
69  2016 The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better? IVA, MMA, OA
70  2016 Towards the development of an enzyme replacement therapy for the metabolic disorder propionic acidemia. CPPs, MTS, PCC, PP-CoA
71  2015 A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing. ---
72  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
73  2015 Cost-effectiveness of liver transplantation in methylmalonic and propionic acidemias. LT, MMA, QALYs
74  2015 Early and late complications after liver transplantation for propionic acidemia in children: a two centers study. LT
75  2015 Gene expression in cell lines from propionic acidemia patients, carrier parents, and controls. LCLs
76  2015 Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias. DBSs, LCHADD, MMA, NBS, TFP
77  2015 Intermediaries of branched chain amino acid metabolism induce fetal hemoglobin, and repress SOX6 and BCL11A, in definitive erythroid cells. BCAA, IVA, MMA, MSUD
78  2015 Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectors. AAV8
79  2015 Propionic acidemia in the Arab World. PCC
80  2015 The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. GA1, MMA, OAD, OTC, UCD
81  2015 The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. ASL, GA1, IVA, MMA, OAD, UCD
82  2015 [Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia]. ---
83  2014 Analysis of methylcitrate in dried blood spots by liquid chromatography-tandem mass spectrometry. Cbl, DAABD-AE, DBS, MCA, MMA
84  2014 Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts. PCC
85  2014 Chronic kidney disease in an adult with propionic acidemia. DTPA
86  2014 Clinical characteristics and mutation analysis of propionic acidemia in Thailand. ---
87  2014 Effects of adeno-associated virus serotype and tissue-specific expression on circulating biomarkers of propionic acidemia. AAV, PCC, TTR
88  2014 Emerging trends in management of propionic acidemia. ---
89  2014 Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. DCM, PCC
90  2014 Severe renal failure and hyperammonemia in a newborn with propionic acidemia: effects of treatment on the clinical course. PCC
91  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
92  2014 Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia. ---
93  2013 Autism spectrum disorder in a child with propionic acidemia. ---
94  2013 Biochemical basis of heterogeneity in acute presentations of propionic acidemia. ---
95  2013 Clinical features and management of organic acidemias in Japan. MMA, OAs
96  2013 Clinical spectrum of propionic acidaemia. ---
97  2013 Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia. PCC, ROS
98  2013 Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing. AAV8, Ad5, PCC
99  2013 Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation. LDLT
100  2013 Intractable metabolic acidosis in a child with propionic acidemia undergoing liver transplantation -a case report-. ---