疾病参考
1:
name:Short bowel syndrome
omim_id:
[1]:
reference_text:Pita AM, Wakabayashi Y, Fernandez-Bustos MA, Virgili N, Riudor E, Soler J, Farriol M: Plasma urea-cycle-related amino acids, ammonium levels, and urinary orotic acid excretion in short-bowel patients managed with an oral diet. Clin Nutr. 2003 Feb;22(1):93-8.
pubmed_id:12553956
[2]:
reference_text:Ellegard L, Sunesson A, Bosaeus I: High serum phytosterol levels in short bowel patients on parenteral nutrition support. Clin Nutr. 2005 Jun;24(3):415-20.
pubmed_id:15896428
[3]:
reference_text:Pita AM, Fernandez-Bustos A, Rodes M, Arranz JA, Fisac C, Virgili N, Soler J, Wakabayashi Y: Orotic aciduria and plasma urea cycle-related amino acid alterations in short bowel syndrome, evoked by an arginine-free diet. JPEN J Parenter Enteral Nutr. 2004 Sep-Oct;28(5):315-23.
pubmed_id:15449570
2:
name:3-Methyl-crotonyl-glycinuria
omim_id:210200
[1]:
reference_text:Rutledge SL, Berry GT, Stanley CA, van Hove JL, Millington D: Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. J Inherit Metab Dis. 1995;18(3):299-305.
pubmed_id:7474896
[2]:
reference_text:Thomsen JA, Lund AM, Olesen JH, Mohr M, Rasmussen J: Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency? JIMD Rep. 2015;21:79-88. doi: 10.1007/8904_2014_393. Epub 2015 Mar 3.
pubmed_id:25732994
[3]:
reference_text:Koeberl DD, Millington DS, Smith WE, Weavil SD, Muenzer J, McCandless SE, Kishnani PS, McDonald MT, Chaing S, Boney A, Moore E, Frazier DM: Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. J Inherit Metab Dis. 2003;26(1):25-35.
pubmed_id:12872837
[4]:
reference_text:de Kremer RD, Latini A, Suormala T, Baumgartner ER, Larovere L, Civallero G, Guelbert N, Paschini-Capra A, Depetris-Boldini C, Mayor CQ: Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. Metab Brain Dis. 2002 Mar;17(1):13-8.
pubmed_id:11893004
[5]:
reference_text:MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de)
pubmed_id:
3:
name:Argininosuccinic aciduria
omim_id:207900
[1]:
reference_text:Lee CR, Pollitt RJ: New derivatives of argininosuccinic acid in the urine of a patient with argininosuccinicaciduria. Biochem J. 1972 Jan;126(1):79-87.
pubmed_id:5075233
[2]:
reference_text:Gronwald W, Klein MS, Kaspar H, Fagerer SR, Nurnberger N, Dettmer K, Bertsch T, Oefner PJ: Urinary metabolite quantification employing 2D NMR spectroscopy. Anal Chem. 2008 Dec 1;80(23):9288-97. doi: 10.1021/ac801627c.
pubmed_id:19551947
[3]:
reference_text:Kleijer WJ, Garritsen VH, Linnebank M, Mooyer P, Huijmans JG, Mustonen A, Simola KO, Arslan-Kirchner M, Battini R, Briones P, Cardo E, Mandel H, Tschiedel E, Wanders RJ, Koch HG: Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. J Inherit Metab Dis. 2002 Sep;25(5):399-410.
pubmed_id:12408190
[4]:
reference_text:MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de)
pubmed_id:
4:
name:Sulfite oxidase deficiency, ISOLATED
omim_id:272300
[1]:
reference_text:Touati G, Rusthoven E, Depondt E, Dorche C, Duran M, Heron B, Rabier D, Russo M, Saudubray JM: Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement. J Inherit Metab Dis. 2000 Feb;23(1):45-53.
pubmed_id:10682307
[2]:
reference_text:Zaki MS, Selim L, El-Bassyouni HT, Issa MY, Mahmoud I, Ismail S, Girgis M, Sadek AA, Gleeson JG, Abdel Hamid MS: Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients. Eur J Paediatr Neurol. 2016 Sep;20(5):714-22. doi: 10.1016/j.ejpn.2016.05.011. Epub 2016 May 30.
pubmed_id:27289259
[3]:
reference_text:Rocha S, Ferreira AC, Dias AI, Vieira JP, Sequeira S: Sulfite oxidase deficiency--an unusual late and mild presentation. Brain Dev. 2014 Feb;36(2):176-9. doi: 10.1016/j.braindev.2013.01.013. Epub 2013 Feb 27.
pubmed_id:23452914
[4]:
reference_text:Rashed MS, Saadallah AA, Rahbeeni Z, Eyaid W, Seidahmed MZ, Al-Shahwan S, Salih MA, Osman ME, Al-Amoudi M, Al-Ahaidib L, Jacob M: Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry. Biomed Chromatogr. 2005 Apr;19(3):223-30.
pubmed_id:15558695
[5]:
reference_text:Clinical and Laboratory Barriers to the Timely Diagnosis of Sulphite Oxidase Deficiency. Proceedings of Singapore Healthcare, 19(2), 94-100.
pubmed_id:
5:
name:3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
omim_id:246450
[1]:
reference_text:Jakobs C, Bojasch M, Duran M, Ketting D, Wadman SK, Leupold D: 3-methyl-3-butenoic acid: an artefact in the urinary metabolic pattern of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Clin Chim Acta. 1980 Sep 8;106(1):85-9.
pubmed_id:6157502
[2]:
reference_text:Muroi J, Yorifuji T, Uematsu A, Shigematsu Y, Onigata K, Maruyama H, Nobutoki T, Kitamura A, Nakahata T: Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. Hum Genet. 2000 Oct;107(4):320-6.
pubmed_id:11129331
[3]:
reference_text:Grunert SC, Schlatter SM, Schmitt RN, Gemperle-Britschgi C, Mrazova L, Balci MC, Bischof F, Coker M, Das AM, Demirkol M, de Vries M, Gokcay G, Haberle J, Ucar SK, Lotz-Havla AS, Lucke T, Roland D, Rutsch F, Santer R, Schlune A, Staufner C, Schwab KO, Mitchell GA, Sass JO: 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. Mol Genet Metab. 2017 Jul;121(3):206-215. doi: 10.1016/j.ymgme.2017.05.014. Epub 2017 May 22.
pubmed_id:28583327
[4]:
reference_text:Bischof F, Nagele T, Wanders RJ, Trefz FK, Melms A: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy. Ann Neurol. 2004 Nov;56(5):727-30.
pubmed_id:15505778
[5]:
reference_text:Dos Santos Mello M, Ribas GS, Wayhs CA, Hammerschmidt T, Guerreiro GB, Favenzani JL, Sitta A, de Moura Coelho D, Wajner M, Vargas CR: Increased oxidative stress in patients with 3-hydroxy-3-methylglutaric aciduria. Mol Cell Biochem. 2015 Apr;402(1-2):149-55. doi: 10.1007/s11010-014-2322-x. Epub 2015 Jan 4.
pubmed_id:25557019
[6]:
reference_text:Santarelli F, Cassanello M, Enea A, Poma F, D'Onofrio V, Guala G, Garrone G, Puccinelli P, Caruso U, Porta F, Spada M: A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. Ital J Pediatr. 2013 May 24;39:33. doi: 10.1186/1824-7288-39-33.
pubmed_id:23705938
[7]:
reference_text:Ozand PT, al Aqeel A, Gascon G, Brismar J, Thomas E, Gleispach H: 3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia. J Inherit Metab Dis. 1991;14(2):174-88.
pubmed_id:1886403
[8]:
reference_text:Zschocke J, Penzien JM, Bielen R, Casals N, Aledo R, Pie J, Hoffmann GF, Hegardt FG, Mayatepek E: The diagnosis of mitochondrial HMG-CoA synthase deficiency. J Pediatr. 2002 Jun;140(6):778-80. doi: 10.1067/mpd.2002.123854.
pubmed_id:12072887
[9]:
reference_text:Leung AA, Chan AK, Ezekowitz JA, Leung AK: A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency. Case Rep Med. 2009;2009:183125. doi: 10.1155/2009/183125. Epub 2009 Nov 4.
pubmed_id:19893767
[10]:
reference_text:MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de)
pubmed_id:
6:
name:Fumarase deficiency
omim_id:606812
[1]:
reference_text:Bastug O, Kardas F, Ozturk MA, Halis H, Memur S, Korkmaz L, Tag Z, Gunes T: A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey. Turk Pediatri Ars. 2014 Mar 1;49(1):74-6. doi: 10.5152/tpa.2014.442. eCollection 2014 Mar.
pubmed_id:26078636
[2]:
reference_text:Allegri G, Fernandes MJ, Scalco FB, Correia P, Simoni RE, Llerena JC Jr, de Oliveira ML: Fumaric aciduria: an overview and the first Brazilian case report. J Inherit Metab Dis. 2010 Aug;33(4):411-9. doi: 10.1007/s10545-010-9134-2. Epub 2010 Jun 15.
pubmed_id:20549362
[3]:
reference_text:Tregoning S, Salter W, Thorburn DR, Durkie M, Panayi M, Wu JY, Easterbrook A, Coman DJ: Fumarase deficiency in dichorionic diamniotic twins. Twin Res Hum Genet. 2013 Dec;16(6):1117-20. doi: 10.1017/thg.2013.72. Epub 2013 Nov 4.
pubmed_id:24182348
[4]:
reference_text:Whelan DT, Hill RE, McClorry S: Fumaric aciduria: a new organic aciduria, associated with mental retardation and speech impairment. Clin Chim Acta. 1983 Aug 31;132(3):301-8.
pubmed_id:6616883
[5]:
reference_text:Maradin M, Fumic K, Hansikova H, Tesarova M, Wenchich L, Dorner S, Sarnavka V, Zeman J, Baric I: Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutations. J Inherit Metab Dis. 2006 Oct;29(5):683. Epub 2006 Aug 5.
pubmed_id:16972175
[6]:
reference_text:MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de)
pubmed_id:
7:
name:N-acetylglutamate synthetase deficiency
omim_id:608300
[1]:
reference_text:Schubiger G, Bachmann C, Barben P, Colombo JP, Tonz O, Schupbach D: N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication. Eur J Pediatr. 1991 Mar;150(5):353-6.
pubmed_id:2044610
[2]:
reference_text:Guffon N, Vianey-Saban C, Bourgeois J, Rabier D, Colombo JP, Guibaud P: A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate. J Inherit Metab Dis. 1995;18(1):61-5.
pubmed_id:7623444
[3]:
reference_text:Hinnie J, Colombo JP, Wermuth B, Dryburgh FJ: N-Acetylglutamate synthetase deficiency responding to carbamylglutamate. J Inherit Metab Dis. 1997 Nov;20(6):839-40.
pubmed_id:9427158
8:
name:Citrullinemia type I
omim_id:215700
[1]:
reference_text:Kose E, Unal O, Bulbul S, Gunduz M, Haberle J, Arslan N: Identification of three novel mutations in fourteen patients with citrullinemia type 1. Clin Biochem. 2017 Aug;50(12):686-689. doi: 10.1016/j.clinbiochem.2017.01.011. Epub 2017 Jan 27.
pubmed_id:28132756
9:
name:Citrullinemia type II, adult-onset
omim_id:603471
[1]:
reference_text:Yajima Y, Hirasawa T, Saheki T: Diurnal fluctuation of blood ammonia levels in adult-type citrullinemia. Tohoku J Exp Med. 1982 Jun;137(2):213-20.
pubmed_id:7202267
[2]:
reference_text:Komatsu M, Yazaki M, Tanaka N, Sano K, Hashimoto E, Takei Y, Song YZ, Tanaka E, Kiyosawa K, Saheki T, Aoyama T, Kobayashi K: Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease. J Hepatol. 2008 Nov;49(5):810-20. doi: 10.1016/j.jhep.2008.05.016. Epub 2008 Jun 10.
pubmed_id:18620775
10:
name:3-Hydroxyacyl-CoA dehydrogenase deficiency
omim_id:231530
[1]:
reference_text:Hsu BY, Kelly A, Thornton PS, Greenberg CR, Dilling LA, Stanley CA: Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome. J Pediatr. 2001 Mar;138(3):383-9. doi: 10.1067/mpd.2001.111818.
pubmed_id:11241047
[2]:
reference_text:Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingre HE, Berger R, van den Berg IE: Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest. 2001 Aug;108(3):457-65.
pubmed_id:11489939
[3]:
reference_text:Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njolstad PR, Jellum E, Sovik O: Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes. 2004 Jan;53(1):221-7.
pubmed_id:14693719
[4]:
reference_text:Vilarinho L, Marques JS, Rocha H, Ramos A, Lopes L, Narayan SB, Bennett MJ: Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening. Mol Genet Metab. 2012 Jul;106(3):277-80. doi: 10.1016/j.ymgme.2012.04.005. Epub 2012 Apr 13.
pubmed_id:22579592
[5]:
reference_text:Popa FI, Perlini S, Teofoli F, Degani D, Funghini S, La Marca G, Rinaldo P, Vincenzi M, Antoniazzi F, Boner A, Camilot M: 3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations. JIMD Rep. 2012;2:71-7. doi: 10.1007/8904_2011_50. Epub 2011 Sep 6.
pubmed_id:23430856
11:
name:Mitochondrial complex I deficiency due to ACAD9 deficiency
omim_id:611126
[1]:
reference_text:He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J: A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. Am J Hum Genet. 2007 Jul;81(1):87-103. Epub 2007 Jun 4.
pubmed_id:17564966
12:
name:Hyperdibasic aminoaciduria I
omim_id:222690
[1]:
reference_text:Whelan DT, Scriver CR: Hyperdibasicaminoaciduria: an inherited disorder of amino acid transport. Pediatr Res. 1968 Nov;2(6):525-34.
pubmed_id:5727921
13:
name:Pearson Syndrome
omim_id:557000
[1]:
reference_text:Crippa BL, Leon E, Calhoun A, Lowichik A, Pasquali M, Longo N: Biochemical abnormalities in Pearson syndrome. Am J Med Genet A. 2015 Mar;167A(3):621-8. doi: 10.1002/ajmg.a.36939.
pubmed_id:25691415
14:
name:Cutis laxa, autosomal recessive, type IIIA
omim_id:219150
[1]:
reference_text:Baumgartner MR, Hu CA, Almashanu S, Steel G, Obie C, Aral B, Rabier D, Kamoun P, Saudubray JM, Valle D: Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. Hum Mol Genet. 2000 Nov 22;9(19):2853-8.
pubmed_id:11092761
15:
name:Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
omim_id:616878
[1]:
reference_text:Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y: Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 4;98(2):347-57. doi: 10.1016/j.ajhg.2015.12.008. Epub 2016 Jan 21.
pubmed_id:26805781
16:
name:Mitochondrial trifunctional protein deficiency
omim_id:609015
[1]:
reference_text:Kumps A, Duez P, Mardens Y: Metabolic, nutritional, iatrogenic, and artifactual sources of urinary organic acids: a comprehensive table. Clin Chem. 2002 May;48(5):708-17.
pubmed_id:11978597
[2]:
reference_text:den Boer ME, Dionisi-Vici C, Chakrapani A, van Thuijl AO, Wanders RJ, Wijburg FA: Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. J Pediatr. 2003 Jun;142(6):684-9. doi: 10.1067/mpd.2003.231.
pubmed_id:12838198
17:
name:Pyruvate carboxylase deficiency
omim_id:266150
[1]:
reference_text:Habarou F, Brassier A, Rio M, Chretien D, Monnot S, Barbier V, Barouki R, Bonnefont JP, Boddaert N, Chadefaux-Vekemans B, Le Moyec L, Bastin J, Ottolenghi C, de Lonlay P: Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis. Mol Genet Metab Rep. 2014 Nov 28;2:25-31. doi: 10.1016/j.ymgmr.2014.11.001. eCollection 2015 Mar.
pubmed_id:28649521
18:
name:Carnitine palmitoyltransferase I deficiency
omim_id:255120
[1]:
reference_text:Olpin SE, Allen J, Bonham JR, Clark S, Clayton PT, Calvin J, Downing M, Ives K, Jones S, Manning NJ, Pollitt RJ, Standing SJ, Tanner MS: Features of carnitine palmitoyltransferase type I deficiency. J Inherit Metab Dis. 2001 Feb;24(1):35-42.
pubmed_id:11286380
19:
name:Cerebral creatine deficiency syndrome 2
omim_id:612736
[1]:
reference_text:Schulze A, Hess T, Wevers R, Mayatepek E, Bachert P, Marescau B, Knopp MV, De Deyn PP, Bremer HJ, Rating D: Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J Pediatr. 1997 Oct;131(4):626-31.
pubmed_id:9386672
[2]:
reference_text:Caldeira Araujo H, Smit W, Verhoeven NM, Salomons GS, Silva S, Vasconcelos R, Tomas H, Tavares de Almeida I, Jakobs C, Duran M: Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. Am J Med Genet A. 2005 Mar 1;133A(2):122-7.
pubmed_id:15651030
20:
name:Infantile Liver Failure Syndrome 2
omim_id:616483
[1]:
reference_text:Staufner C, Haack TB, Kopke MG, Straub BK, Kolker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Lenz D, Kuhr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Ozolek JA, Zschocke J, Kuster A, Dick A, Das AM, Wieland T, Terrile C, Strom TM, Meitinger T, Prokisch H, Hoffmann GF: Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. J Inherit Metab Dis. 2016 Jan;39(1):3-16. doi: 10.1007/s10545-015-9896-7. Epub 2015 Nov 5.
pubmed_id:26541327
21:
name:Long-chain Fatty Acids, Defect in Transport of
omim_id:603376
[1]:
reference_text:Treem WR, Stanley CA, Finegold DN, Hale DE, Coates PM: Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts. N Engl J Med. 1988 Nov 17;319(20):1331-6. doi: 10.1056/NEJM198811173192006.
pubmed_id:3185635
22:
name:Myopathy, lactic acidosis, and sideroblastic anemia 1
omim_id:600462
[1]:
reference_text:Casas KA, Fischel-Ghodsian N: Mitochondrial myopathy and sideroblastic anemia. Am J Med Genet A. 2004 Mar 1;125A(2):201-4. doi: 10.1002/ajmg.a.20368.
pubmed_id:14981724
[2]:
reference_text:Parfait B, de Lonlay P, von Kleist-Retzow JC, Cormier-Daire V, Chretien D, Rotig A, Rabier D, Saudubray JM, Rustin P, Munnich A: The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia. Eur J Pediatr. 1999 Jan;158(1):55-8.
pubmed_id:9950309
23:
name:Phosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic
omim_id:261680
[1]:
reference_text:Vieira P, Cameron J, Rahikkala E, Keski-Filppula R, Zhang LH, Santra S, Matthews A, Myllynen P, Nuutinen M, Moilanen JS, Rodenburg RJ, Rolfs A, Uusimaa J, van Karnebeek CDM: Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction. Mol Genet Metab. 2017 Apr;120(4):337-341. doi: 10.1016/j.ymgme.2017.02.003. Epub 2017 Feb 6.
pubmed_id:28216384
[2]:
reference_text:Santra S, Cameron JM, Shyr C, Zhang L, Drogemoller B, Ross CJ, Wasserman WW, Wevers RA, Rodenburg RJ, Gupte G, Preece MA, van Karnebeek CD: Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis. Mol Genet Metab. 2016 May;118(1):21-7. doi: 10.1016/j.ymgme.2016.03.001. Epub 2016 Mar 4.
pubmed_id:26971250