63:
37:
290:
1366:
161:
332:. Without a nucleus, they lack the ability to synthesize new proteins so if anything happens to their pyruvate kinase, they are unable to generate replacement enzymes throughout the rest of their life cycle. Without mitochondria, erythrocytes are heavily dependent on the anaerobic generation of ATP during glycolysis for nearly all of their energy requirements.
355:, water moves down its concentration gradient out of the cell. The cell shrinks and cellular death occurs, this is called 'dehydration at cellular level'. This is how a deficiency in pyruvate kinase results in hemolytic anaemia, the body is deficient in red blood cells as they are destroyed by lack of ATP at a larger rate than they are being created.
371:
counts. Other methods include direct enzyme assays, which can determine pyruvate kinase levels in erythrocytes separated by density centrifugation, as well as direct DNA sequencing. For the most part when dealing with pyruvate kinase deficiency, these two diagnostic techniques are complementary to
170:
Symptoms can be extremely varied among those suffering from pyruvate kinase deficiency. The majority of those suffering from the disease are detected at birth while some only present symptoms during times of great physiological stress such as pregnancy, or with acute illnesses
1086:
392:
or may require intensive treatment. With these severe cases of pyruvate kinase deficiency in red blood cells, treatment is the only option, there is no cure. However, treatment is usually effective in reducing the severity of the symptoms.
313:. This is the second ATP producing step of the process and the third regulatory reaction. Pyruvate kinase deficiency in the red blood cells results in an inadequate amount of or complete lack of the enzyme, blocking the completion of the
798:
Christensen, Robert D.; Yaish, Hassan M.; Johnson, Charlotte B.; Bianchi, Paola; Zanella, Alberto (October 2011). "Six
Children with Pyruvate Kinase Deficiency from One Small Town: Molecular Characterization of the PK-LR Gene".
238:
is overactivated. This led to a rightward shift in the oxygen dissociation curve of hemoglobin (i.e. it decreases the hemoglobin affinity for oxygen): In consequence, patients may tolerate anemia surprisingly well.
1261:
1246:
441:
Pyruvate kinase deficiency happens worldwide, however northern Europe, and Japan have many cases. The prevalence of pyruvate kinase deficiency is around 51 cases per million in the population (via
372:
each other as they both contain their own flaws. Direct enzyme assays can diagnose the disorder and molecular testing confirms the diagnosis or vice versa. Furthermore, tests to determine
1947:
1925:
1109:
583:
1940:
2134:
388:
Most affected individuals with pyruvate kinase deficiency do not require treatment. Those individuals who are more severely affected may die in utero of
1087:"Agios Announces FDA Approval of Pyrukynd (mitapivat) as First Disease-Modifying Therapy for Hemolytic Anemia in Adults with Pyruvate Kinase Deficiency"
2488:
1933:
427:
occurs when the reticulocytes are trapped in the hypoxic environment of the spleen. This reduces severe anemia and the need for blood transfusions.
2200:
2412:
1554:
1955:
2428:
1759:
423:. This does not stop the destruction of erythrocytes but it does help increase the amount of reticulocytes in the body since most of the
1910:
1412:
1862:
1684:
2029:
1960:
1754:
1694:
401:
2493:
317:. Therefore, all products past the block would be deficient in the red blood cell. These products include ATP and pyruvate.
2339:
1571:
994:
Jacobasch, Gisela; Rapoport, Samuel M. (1996-04-01). "Chapter 3 Hemolytic anemias due to erythrocyte enzyme deficiencies".
175:
disorders). Symptoms are limited to or most severe during childhood. Among the symptoms of pyruvate kinase deficiency are:
1168:
Hoffman, Ronald; Benz, Edward J. Jr.; Silberstein, Leslie E.; Heslop, Helen; Weitz, Jeffrey; Anastasi, John (2013-02-12).
584:"Pyruvate kinase deficiency | Disease | Overview | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
265:
180 different mutations have been found on the gene coding for the L and R isoenzymes, 124 of which are single-nucleotide
1726:
1276:
473:
400:, especially in infants and young children. This is done if the red blood cell count has fallen to a critical level. The
1140:
2384:
1179:
2228:
1735:
1706:
1070:
1043:
978:
727:
591:
2278:
2246:
2234:
2183:
1766:
1638:
2389:
2379:
2240:
2189:
2177:
2104:
2024:
1110:"Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population"
415:) because reticulocytes are immature red blood cells that still contain mitochondria and so can produce ATP via
2333:
2138:
1699:
1405:
454:
1720:
1628:
2328:
1793:
1745:
1381:
2462:
1650:
335:
With insufficient ATP in an erythrocyte, all active processes in the cell come to a halt. Sodium potassium
2252:
1802:
1676:
1540:
1495:
262:, respectively). Mutations in the PKLR gene therefore cause a deficiency in the pyruvate kinase enzyme.
1956:
1740:
235:
2404:
2268:
1667:
1657:
1645:
1398:
416:
140:
inheritance have been observed with the disorder; classically, and more commonly, the inheritance is
62:
2417:
2129:
1970:
1633:
1287:
891:
2050:
1838:
1689:
278:
258:, two of which are encoded by the PKLR gene (isoenzymes L and R, which are used in the liver and
2039:
1829:
1490:
615:
Gallagher, Patrick G.; Glader, Bertil (2016-05-01). "Diagnosis of
Pyruvate Kinase Deficiency".
306:
1327:
559:
529:
2449:
2422:
2349:
2099:
1809:
1576:
302:
1819:
1814:
1622:
1508:
364:
270:
133:
95:
230:
The level of 2,3-bisphosphoglycerate is elevated: 1,3-bisphosphoglycerate, a precursor of
8:
2005:
2000:
1868:
1613:
1421:
1349:
1265:
502:
231:
224:
185:
141:
44:
1371:
921:"The energy-less red blood cell is lost: erythrocyte enzyme abnormalities of glycolysis"
1900:
1873:
1478:
695:
670:
648:
118:
71:
1270:
2307:
1905:
1895:
1854:
1849:
1844:
1785:
1617:
1606:
1596:
1530:
1513:
1504:
1486:
1448:
1298:
1212:
1175:
1132:
1066:
1039:
1011:
1007:
974:
950:
942:
868:
860:
816:
777:
769:
764:
747:
723:
700:
640:
632:
397:
266:
89:
51:
652:
503:"Pyruvate Kinase Deficiency Clinical Presentation: History and Physical Examination"
2044:
2033:
1601:
1586:
1525:
1338:
1202:
1124:
1003:
932:
850:
808:
759:
690:
682:
624:
145:
1207:
1190:
746:
Zanella, Alberto; Fermo, Elisa; Bianchi, Paola; Valentini, Giovanna (2005-07-01).
2371:
1780:
1292:
1169:
1060:
1033:
968:
412:
252:
149:
144:. Pyruvate kinase deficiency is the second most common cause of enzyme-deficient
122:
812:
2211:
2195:
2078:
2015:
1964:
1797:
1425:
1303:
937:
920:
686:
442:
408:
321:
259:
126:
1390:
1255:
1128:
407:
There is a natural way the body tries to treat this disease. It increases the
2482:
2444:
2284:
946:
864:
773:
636:
340:
329:
195:
2169:
2119:
1991:
1440:
1136:
954:
872:
855:
838:
820:
781:
644:
377:
368:
325:
310:
203:
1216:
1015:
704:
419:. Therefore, a treatment option in extremely severe cases is to perform a
36:
1591:
1549:
1322:
420:
301:, transferring the phosphate group from phosphenol pyruvate to a waiting
190:
1238:
2456:
2316:
1560:
1344:
373:
314:
298:
164:
56:
628:
2115:
1333:
748:"Red cell pyruvate kinase deficiency: molecular and clinical aspects"
430:
424:
344:
137:
433:
was approved for medical use in the United States in
February 2022.
289:
234:
which is the substrate for
Pyruvate kinase, is increased and so the
2264:
2160:
2089:
352:
274:
214:
130:
115:
722:(6th ed.). Philadelphia, PA: Saunders/Elsevier. p. 703.
2303:
2156:
2069:
1979:
255:
219:
1281:
477:
363:
The diagnosis of pyruvate kinase deficiency can be done by full
2466:
2324:
2065:
1469:
1250:
389:
348:
336:
209:
180:
797:
560:"Pyruvate kinase deficiency: MedlinePlus Medical Encyclopedia"
892:"Pyruvate Kinase Deficiency. Information about PKD | Patient"
172:
160:
1167:
745:
2360:
2281:(Pompe's disease, glucosidase deficiency, formerly GSD-IIa)
248:
2392:(von Gierke's disease, glucose 6-phosphatase deficiency)
2237:(Hers' disease, liver glycogen phosphorylase deficiency)
2077:
1089:(Press release). Agios Pharmaceuticals. 17 February 2022
1032:
919:
Wijk, Richard van; Solinge, Wouter W. van (2005-12-15).
247:
Pyruvate kinase deficiency is due to a mutation in the
2461:
Fatal congenital nonlysosomal cardiac glycogenosis (
1228:
836:
351:, potassium leaks out. Intracellular fluid becomes
297:Pyruvate kinase is the last enzyme involved in the
1191:"Prenatal Diagnosis of Pyruvate Kinase Deficiency"
1038:. Lippincott Williams & Wilkins. p. 496.
837:Zanella, A.; Bianchi, P.; Fermo, E. (2007-06-01).
2336:(Tarui's disease, phosphofructokinase deficiency)
2186:(Andersen's disease, branching enzyme deficiency)
993:
269:. Pyruvate kinase deficiency is most commonly an
2480:
2243:(McArdle's disease, myophosphorylase deficiency)
2231:(Cori's disease, debranching enzyme deficiency)
1420:
614:
404:has also been conducted as a treatment option.
1107:
1941:
1406:
2413:Glucose-6-phosphate dehydrogenase deficiency
1555:Glucose-6-phosphate dehydrogenase deficiency
668:
2429:6-phosphogluconate dehydrogenase deficiency
1439:
918:
376:(bilirubin) can be used to see whether the
277:that demonstrate symptoms of the disorder,
1948:
1934:
1911:Hereditary persistence of fetal hemoglobin
1413:
1399:
886:
884:
882:
61:
35:
2361:Mitochondrial pyruvate carrier deficiency
1863:Mean corpuscular hemoglobin concentration
1685:Warm antibody autoimmune hemolytic anemia
1206:
1188:
1031:
936:
854:
763:
694:
2489:Inborn errors of carbohydrate metabolism
2030:Inborn errors of renal tubular transport
1108:Beutler, Ernest; Gelbart, Terri (2000).
1079:
973:. AuthorHouse. 2013-02-06. p. 181.
720:Hematology basic principles and practice
717:
288:
159:
879:
339:pumps are the first to stop. Since the
2481:
1065:. John Wiley & Sons. p. 341.
554:
552:
550:
30:Erythrocyte pyruvate kinase deficiency
1929:
1468:
1394:
1058:
1027:
1025:
914:
912:
832:
830:
793:
791:
524:
522:
155:
2340:Triosephosphate isomerase deficiency
2287:(LAMP2 deficiency, formerly GSD-IIb)
1572:triosephosphate isomerase deficiency
741:
739:
664:
662:
610:
608:
497:
495:
493:
491:
489:
487:
485:
2354:Phosphoglucose isomerase deficiency
2255:(PGM1-CDG, CDG1T, formerly GSD-XIV)
1727:paroxysmal nocturnal hemoglobinuria
1695:Donath–Landsteiner hemolytic anemia
1675:
1171:Hematology: Diagnosis and Treatment
547:
474:Online Mendelian Inheritance in Man
13:
2385:Fructose bisphosphatase deficiency
2357:Phosphoglycerate kinase deficiency
1161:
1022:
909:
827:
788:
519:
305:(ADP) molecule, resulting in both
284:
14:
2505:
2249:(phosphorylase kinase deficiency)
1736:Microangiopathic hemolytic anemia
1707:Mixed autoimmune hemolytic anemia
1224:
736:
659:
605:
482:
2279:Glycogen storage disease type II
1767:Hemolytic disease of the newborn
1364:
765:10.1111/j.1365-2141.2005.05527.x
367:(differential blood counts) and
2380:Pyruvate carboxylase deficiency
2190:Adult polyglucosan body disease
2025:Glucose-galactose malabsorption
1101:
1052:
987:
961:
436:
2180:(glycogen synthase deficiency)
1700:Paroxysmal cold hemoglobinuria
752:British Journal of Haematology
711:
576:
467:
455:List of hematologic conditions
402:transplantation of bone marrow
281:can also show clinical signs.
125:which affects the survival of
1:
2253:Phosphoglucomutase deficiency
1208:10.1182/blood.V84.7.2354.2354
1059:Davey, Patrick (2010-02-01).
996:Molecular Aspects of Medicine
675:Journal of Clinical Pathology
460:
396:The most common treatment is
2494:Hereditary hemolytic anemias
2463:AMP-activated protein kinase
1651:Southeast Asian ovalocytosis
1639:Minkowski–Chauffard syndrome
1174:. Elsevier Health Sciences.
1035:NORD Guide to Rare Disorders
1008:10.1016/0098-2997(96)88345-2
839:"Pyruvate kinase deficiency"
671:"Pyruvate kinase deficiency"
617:Pediatric Blood & Cancer
530:"Pyruvate kinase deficiency"
383:
358:
7:
1189:Baroncian, Luciano (1994).
813:10.1016/j.jpeds.2011.05.043
669:Gordon-Smith, E.C. (1974).
448:
10:
2510:
2425:(Transketolase deficiency)
2345:Pyruvate kinase deficiency
1760:Drug-induced nonautoimmune
1741:Thrombotic microangiopathy
1567:pyruvate kinase deficiency
1382:Pyruvate kinase deficiency
1350:Pyruvate kinase deficiency
1097:– via GlobeNewswire.
938:10.1182/blood-2005-04-1622
687:10.1136/jcp.27.suppl_8.128
236:Luebering-Rapoport pathway
112:Pyruvate kinase deficiency
22:Pyruvate kinase deficiency
2437:
2405:Pentose phosphate pathway
2403:
2370:
2315:
2302:
2262:
2219:
2210:
2168:
2155:
2113:
2087:
2064:
2014:
1990:
1978:
1971:glycogen storage diseases
1888:
1828:
1779:
1746:Hemolytic–uremic syndrome
1666:
1658:Hereditary stomatocytosis
1646:Hereditary elliptocytosis
1539:
1524:
1477:
1461:
1432:
1313:
1232:
1129:10.1182/blood.V95.11.3585
801:The Journal of Pediatrics
588:rarediseases.info.nih.gov
417:oxidative phosphorylation
271:autosomal recessive trait
179:Mild to severe hemolytic
101:
88:
80:
70:
50:
43:
34:
26:
21:
2418:Transaldolase deficiency
1634:Hereditary spherocytosis
273:. Although it is mostly
242:
2203:(glycogenin deficiency)
2051:Fanconi-Bickel syndrome
1961:carbohydrate metabolism
1839:Mean corpuscular volume
1803:Diamond–Blackfan anemia
1755:Drug-induced autoimmune
1690:Cold agglutinin disease
1496:Plummer–Vinson syndrome
534:Genetics Home Reference
2040:Fructose malabsorption
1491:Iron-deficiency anemia
856:10.3324/haematol.11469
507:emedicine.medscape.com
380:has been compromised.
307:adenosine triphosphate
294:
279:compound heterozygotes
167:
2450:Primary hyperoxaluria
2350:Aldolase A deficiency
2100:Essential fructosuria
1967:metabolism disorders
1810:Pure red cell aplasia
1577:hexokinase deficiency
970:Haematology Made Easy
718:al.], Ronald (2013).
343:is more permeable to
303:adenosine diphosphate
292:
251:gene. There are four
163:
84:Mutation in PKLR gene
2105:Fructose intolerance
2001:Congenital alactasia
1815:Sideroblastic anemia
1623:Hemoglobin C disease
1509:Megaloblastic anemia
1062:Medicine at a Glance
2006:Sucrose intolerance
1614:Sickle cell disease
232:phosphoenolpyruvate
225:Shortness of breath
186:Cholecystolithiasis
142:autosomal recessive
76:Anemia, tachycardia
45:Phosphoenolpyruvate
2053:(GLUT2 deficiency)
2047:(GLUT1 deficiency)
1901:Sulfhemoglobinemia
1314:External resources
398:blood transfusions
315:glycolytic pathway
299:glycolytic process
295:
267:missense mutations
168:
156:Signs and symptoms
119:metabolic disorder
2476:
2475:
2399:
2398:
2363:(MPC1 deficiency)
2298:
2297:
2294:
2293:
2151:
2150:
2147:
2146:
2060:
2059:
1923:
1922:
1919:
1918:
1906:Reticulocytopenia
1896:Methemoglobinemia
1884:
1883:
1775:
1774:
1715:
1714:
1514:Pernicious anemia
1457:
1456:
1449:Polycythemia vera
1359:
1358:
1123:(11): 3585–3588.
931:(13): 4034–4042.
629:10.1002/pbc.25922
109:
108:
105:Blood transfusion
90:Diagnostic method
16:Medical condition
2501:
2313:
2312:
2272:
2222:
2217:
2216:
2166:
2165:
2123:
2093:
2085:
2084:
2075:
2074:
2034:Renal glycosuria
1988:
1987:
1950:
1943:
1936:
1927:
1926:
1673:
1672:
1587:hemoglobinopathy
1537:
1536:
1475:
1474:
1466:
1465:
1437:
1436:
1415:
1408:
1401:
1392:
1391:
1368:
1367:
1230:
1229:
1220:
1210:
1201:(7): 2354–2356.
1185:
1155:
1154:
1152:
1151:
1145:
1139:. Archived from
1114:
1105:
1099:
1098:
1096:
1094:
1083:
1077:
1076:
1056:
1050:
1049:
1029:
1020:
1019:
991:
985:
984:
965:
959:
958:
940:
916:
907:
906:
904:
903:
898:. 19 August 2011
888:
877:
876:
858:
834:
825:
824:
795:
786:
785:
767:
743:
734:
733:
715:
709:
708:
698:
666:
657:
656:
612:
603:
602:
600:
599:
590:. Archived from
580:
574:
573:
571:
570:
556:
545:
544:
542:
541:
526:
517:
516:
514:
513:
499:
480:
471:
146:hemolytic anemia
66:
65:
39:
19:
18:
2509:
2508:
2504:
2503:
2502:
2500:
2499:
2498:
2479:
2478:
2477:
2472:
2433:
2395:
2372:Gluconeogenesis
2366:
2290:
2263:
2258:
2221:Extralysosomal:
2220:
2206:
2143:
2139:GALE deficiency
2135:GALT deficiency
2130:GALK deficiency
2114:
2109:
2088:
2056:
2045:De Vivo Disease
2010:
1984:(extracellular)
1983:
1974:
1968:
1954:
1924:
1915:
1880:
1824:
1783:
1771:
1711:
1662:
1528:
1520:
1453:
1428:
1426:red blood cells
1419:
1389:
1388:
1387:
1369:
1365:
1360:
1355:
1354:
1309:
1308:
1241:
1227:
1182:
1164:
1162:Further reading
1159:
1158:
1149:
1147:
1143:
1112:
1106:
1102:
1092:
1090:
1085:
1084:
1080:
1073:
1057:
1053:
1046:
1030:
1023:
992:
988:
981:
967:
966:
962:
917:
910:
901:
899:
890:
889:
880:
835:
828:
796:
789:
744:
737:
730:
716:
712:
667:
660:
613:
606:
597:
595:
582:
581:
577:
568:
566:
564:www.nlm.nih.gov
558:
557:
548:
539:
537:
528:
527:
520:
511:
509:
501:
500:
483:
472:
468:
463:
451:
439:
413:reticulocytosis
386:
361:
287:
285:Pathophysiology
253:pyruvate kinase
245:
196:Hemochromatosis
158:
150:G6PD deficiency
127:red blood cells
123:pyruvate kinase
94:Physical exam,
60:
17:
12:
11:
5:
2507:
2497:
2496:
2491:
2474:
2473:
2471:
2470:
2459:
2454:
2453:
2452:
2441:
2439:
2435:
2434:
2432:
2431:
2426:
2420:
2415:
2409:
2407:
2401:
2400:
2397:
2396:
2394:
2393:
2387:
2382:
2376:
2374:
2368:
2367:
2365:
2364:
2358:
2355:
2352:
2347:
2342:
2337:
2331:
2321:
2319:
2310:
2300:
2299:
2296:
2295:
2292:
2291:
2289:
2288:
2282:
2275:
2273:
2260:
2259:
2257:
2256:
2250:
2244:
2238:
2232:
2225:
2223:
2214:
2212:Glycogenolysis
2208:
2207:
2205:
2204:
2198:
2196:Lafora disease
2193:
2187:
2181:
2174:
2172:
2163:
2153:
2152:
2149:
2148:
2145:
2144:
2142:
2141:
2132:
2126:
2124:
2111:
2110:
2108:
2107:
2102:
2096:
2094:
2082:
2079:Monosaccharide
2072:
2062:
2061:
2058:
2057:
2055:
2054:
2048:
2042:
2037:
2027:
2021:
2019:
2016:Monosaccharide
2012:
2011:
2009:
2008:
2003:
1997:
1995:
1985:
1976:
1975:
1965:monosaccharide
1953:
1952:
1945:
1938:
1930:
1921:
1920:
1917:
1916:
1914:
1913:
1908:
1903:
1898:
1892:
1890:
1886:
1885:
1882:
1881:
1879:
1878:
1877:
1876:
1871:
1859:
1858:
1857:
1852:
1847:
1834:
1832:
1826:
1825:
1823:
1822:
1817:
1812:
1805:
1800:
1798:Fanconi anemia
1791:
1789:
1777:
1776:
1773:
1772:
1770:
1769:
1763:
1762:
1757:
1751:
1750:
1749:
1748:
1738:
1732:
1731:
1730:
1729:
1716:
1713:
1712:
1710:
1709:
1704:
1703:
1702:
1692:
1687:
1681:
1679:
1670:
1664:
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1233:Classification
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1225:External links
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1181:978-1455776887
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1820:Myelophthisic
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1142:
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594:on 2015-09-05
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58:
55:
53:
49:
46:
42:
38:
33:
29:
25:
20:
2465:deficiency,
2344:
2334:GSD type VII
2229:GSD type III
2170:Glycogenesis
2120:galactosemia
1992:Disaccharide
1957:Inborn error
1869:normochromic
1861:
1837:
1719:
1627:
1585:
1566:
1559:
1548:
1441:Polycythemia
1380:
1379:
1378:profile for
1375:
1343:
1332:
1321:
1297:
1286:
1275:
1260:
1245:
1198:
1194:
1170:
1148:. Retrieved
1141:the original
1120:
1116:
1103:
1091:. Retrieved
1081:
1061:
1054:
1034:
999:
995:
989:
969:
963:
928:
924:
900:. Retrieved
895:
846:
842:
804:
800:
758:(1): 11–25.
755:
751:
719:
713:
678:
674:
620:
616:
596:. Retrieved
592:the original
587:
578:
567:. Retrieved
563:
538:. Retrieved
536:. 2015-11-09
533:
510:. Retrieved
506:
469:
440:
437:Epidemiology
429:
411:production (
406:
395:
387:
378:gall bladder
369:reticulocyte
365:blood counts
362:
334:
330:mitochondria
322:erythrocytes
319:
296:
264:
260:erythrocytes
246:
229:
204:Splenomegaly
169:
148:, following
111:
110:
2247:GSD type IX
2235:GSD type VI
2201:GSD type XV
2184:GSD type IV
1982:, transport
1874:hypochromic
1830:Blood tests
1592:Thalassemia
1550:enzymopathy
1479:Nutritional
1323:MedlinePlus
1093:19 February
421:splenectomy
409:erythrocyte
275:homozygotes
191:Tachycardia
27:Other names
2483:Categories
2457:Pentosuria
2390:GSD type I
2317:Glycolysis
2241:GSD type V
2178:GSD type 0
2081:catabolism
1994:catabolism
1969:Including
1855:macrocytic
1850:microcytic
1845:normocytic
1808:Acquired:
1794:Hereditary
1561:glycolysis
1541:Hereditary
1345:Patient UK
1299:DiseasesDB
1150:2016-11-25
902:2015-11-11
598:2015-11-11
569:2015-11-11
540:2015-11-11
512:2015-11-11
461:References
374:bile salts
309:(ATP) and
256:isoenzymes
165:Gallstones
57:Hematology
2265:Lysosomal
2116:Galactose
2018:transport
1526:Hemolytic
1334:eMedicine
947:0006-4971
865:0390-6078
774:1365-2141
637:1545-5017
431:Mitapivat
425:hemolysis
384:Treatment
359:Diagnosis
353:hypotonic
345:potassium
138:recessive
131:autosomal
116:inherited
102:Treatment
52:Specialty
2161:glycogen
2090:Fructose
1784:(mostly
1781:Aplastic
1721:membrane
1668:Acquired
1629:membrane
1529:(mostly
1422:Diseases
1339:med/1980
1137:10828047
955:16051738
873:17550841
821:21784452
782:15982340
653:42964783
645:26836632
476:(OMIM):
449:See also
311:pyruvate
215:Jaundice
134:dominant
72:Symptoms
2304:Glucose
2157:Glucose
2070:glucose
1980:Sucrose
1372:Scholia
1293:C564858
1217:7919353
1016:8813716
896:Patient
705:4536359
696:1347209
326:nucleus
324:lack a
320:Mature
220:Fatigue
129:. Both
2467:PRKAG2
2325:MODY 2
2192:(APBD)
2066:Hexose
1786:normo-
1531:normo-
1505:Macro-
1487:Micro-
1470:Anemia
1374:has a
1328:001197
1282:266200
1215:
1178:
1135:
1069:
1042:
1014:
977:
953:
945:
871:
863:
819:
780:
772:
726:
703:
693:
651:
643:
635:
478:266200
390:anemia
349:sodium
337:ATPase
293:ATP-3D
210:ulcers
181:Anemia
114:is an
81:Causes
59:
2438:Other
2423:SDDHD
1973:(GSD)
1889:Other
1618:trait
1607:delta
1597:alpha
1376:topic
1304:11090
1271:282.3
1256:D55.2
1195:Blood
1144:(PDF)
1117:Blood
1113:(PDF)
925:Blood
649:S2CID
347:than
243:Cause
173:viral
2329:HHF3
1677:AIHA
1602:beta
1288:MeSH
1277:OMIM
1266:9-CM
1213:PMID
1176:ISBN
1133:PMID
1095:2022
1067:ISBN
1040:ISBN
1012:PMID
975:ISBN
951:PMID
943:ISSN
869:PMID
861:ISSN
817:PMID
778:PMID
770:ISSN
724:ISBN
701:PMID
679:s3-8
641:PMID
633:ISSN
328:and
249:PKLR
208:Leg
136:and
2308:CAC
2269:LSD
1959:of
1424:of
1262:ICD
1247:ICD
1203:doi
1125:doi
1004:doi
933:doi
929:106
851:doi
809:doi
805:159
760:doi
756:130
691:PMC
683:doi
625:doi
445:).
96:CBC
2485::
2306:⇄
2271:):
2159:⇄
2118:/
2068:→
1963::
1796::
1507::
1489::
1348::
1337::
1326::
1302::
1291::
1280::
1269::
1254::
1251:10
1211:.
1199:84
1197:.
1193:.
1131:.
1121:95
1119:.
1115:.
1024:^
1010:.
1000:17
998:.
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927:.
923:.
911:^
894:.
881:^
867:.
859:.
847:92
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841:.
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803:.
790:^
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768:.
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750:.
738:^
699:.
689:.
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673:.
661:^
647:.
639:.
631:.
621:63
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607:^
586:.
562:.
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484:^
152:.
2469:)
2327:/
2267:(
2137:/
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2092::
2036:)
2032:(
1949:e
1942:t
1935:v
1788:)
1631::
1616:/
1589::
1552::
1533:)
1462:↓
1433:↑
1414:e
1407:t
1400:v
1386:.
1264:-
1249:-
1239:D
1219:.
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762::
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707:.
685::
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627::
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515:.
171:(
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
