211:
55:
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29:
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disturbances. Without treatment, tyrosinemia leads to liver failure. Today, tyrosinemia is increasingly detected on newborn screening tests before any symptoms appear. With early and lifelong management involving a low-protein diet, special protein formula, and sometimes medication, people with
607:
592:
231:
has shown it to be effective, especially when started within the first month of life, and it is now the standard course of treatment. It is a 4-hydroxyphenylpyruvate dioxygenase inhibitor indicated for the treatment of
737:
172:. Type III tyrosinemia is the rarest of the three conditions, with only a few cases ever reported. Most of those cases have included intellectual disability and neurologic dysfunction.
67:
196:
Type II tyrosinemia can be detected via the presence of significantly elevated plasma tyrosine levels, and the diagnosis can be confirmed by detection of a mutation in
818:
114:
All tyrosinemias result from dysfunction of various genes in the phenylalanine and tyrosine catabolic pathway, and are inherited in an autosomal-recessive pattern.
1204:
1065:
1023:
412:
Heylen E, Scherer G, Vincent MF, Marie S, Fischer J, Nassogne MC (November 2012). "Tyrosinemia Type III detected via neonatal screening: management and outcome".
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is indicated for patients with tyrosinemia type I who do not respond to nitisinone, as well as those with acute liver failure and hepatomas.
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1318:
1154:
622:
169:
2197:
1539:
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1405:
449:"Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs"
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combined with the use of a specially engineered formula to supply protein is required in most cases. Experience with
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Zea-Rey AV, Cruz-Camino H, Vazquez-Cantu DL, GutiĂ©rrez-GarcĂa VM, Santos-Guzmán J, CantĂş-Reyna C (Nov 2017).
1992:
1966:
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Type I tyrosinemia can be detected via blood tests for the presence of a fumarylacetoacetate metabolite,
2235:
2121:
2094:
2067:
2019:
1973:
1668:
1435:
870:
241:
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deficiency, the substrate tyrosine accumulates, causing ophthalmologic and dermatologic abnormalities.
214:
Pathophysiology of metabolic disorders of tyrosine, resulting in elevated levels of tyrosine in blood.
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Mieles LA, Esquivel CO, Van Thiel DH, Koneru B, Makowka L, Tzakis AG, Starzl TE (January 1990).
526:"Liver transplantation for tyrosinemia. A review of 10 cases from the University of Pittsburgh"
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tyrosinemia type 1 (HT-1) in combination with dietary restriction of tyrosine and
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310:"The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population"
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447:
De JesĂşs VR, Adam BW, Mandel D, Cuthbert CD, Matern D (2014-09-01).
203:
Type III tyrosinemia can be diagnosed by detection of a mutation in
124:
gene, which encodes the enzyme fumarylacetoacetase. As a result of
209:
101:
94:
tyrosinemia develop normally, are healthy, and live normal lives.
86:
81:, in which the body cannot effectively break down the amino acid
633:
630:
627:
285:
Fleisher & Ludwig's
Textbook of Pediatric Emergency Medicine
1521:
719:
140:, resulting in damage to the kidney and liver, respectively.
1517:
391:(6th ed.). New York: WH Freeman and Co. p. 719.
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809:
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757:
665:
578:
223:Treatment varies depending on the specific type; a
42:
21:
705:GeneReview/NCBI/NIH/UW entry on Tyrosinemia Type 1
819:3-hydroxy-3-methylglutaryl-CoA lyase deficiency
1205:6-Pyruvoyltetrahydropterin synthase deficiency
1533:
731:
8:
1089:2-Methylbutyryl-CoA dehydrogenase deficiency
85:. Symptoms of untreated tyrosinemia include
1387:Carbamoyl phosphate synthetase I deficiency
824:3-Methylcrotonyl-CoA carboxylase deficiency
1822:Reproductive endocrinology and infertility
1567:
1540:
1526:
1518:
1348:
1192:
1179:
1048:
956:
889:
875:
767:
738:
724:
716:
575:
53:
18:
2163:Bachelor of Medicine, Bachelor of Surgery
549:
472:
325:
1066:Isobutyryl-CoA dehydrogenase deficiency
275:
314:Journal of Inborn Errors of Metabolism
1402:Ornithine transcarbamylase deficiency
1397:N-Acetylglutamate synthase deficiency
7:
2301:
2062:Physical medicine and rehabilitation
1319:Dopamine beta hydroxylase deficiency
389:Lehninger Principles of Biochemistry
382:
380:
378:
352:
350:
348:
346:
344:
2311:
1155:Methylmalonyl-CoA mutase deficiency
170:4-hydroxyphenylpyruvate dioxygenase
2198:Medical Scientist Training Program
359:"Disorders of Tyrosine Metabolism"
14:
907:Glutathione synthetase deficiency
453:Molecular Genetics and Metabolism
414:Molecular Genetics and Metabolism
2330:
2320:
2310:
2300:
2291:
2290:
502:Orfadin [package insert]
27:
2357:Amino acid metabolism disorders
2331:
530:Digestive Diseases and Sciences
168:gene, which encodes the enzyme
164:results from a mutation in the
150:gene, which encodes the enzyme
146:results from a mutation in the
120:results from a mutation in the
106:Tyrosinemia is inherited in an
2188:Doctor of Osteopathic Medicine
1622:Oral and maxillofacial surgery
1210:Tetrahydrobiopterin deficiency
1:
2362:Autosomal recessive disorders
1455:Lysinuric protein intolerance
829:3-Methylglutaconic aciduria 1
2168:Bachelor of Medical Sciences
1935:Neurosurgical anesthesiology
1094:Beta-ketothiolase deficiency
134:proximal renal tubular cells
1497:Ethylmalonic encephalopathy
497:Swedish Orphan Biovitrum AB
465:10.1016/j.ymgme.2014.07.010
426:10.1016/j.ymgme.2012.09.002
193:indicator for the disease.
2378:
1487:2-Hydroxyglutaric aciduria
1466:Oculocerebrorenal syndrome
259:Inborn error of metabolism
207:in cultured fibroblasts.
128:deficiency, the substrate
2286:
1492:Aminoacylase 1 deficiency
1382:Argininosuccinic aciduria
1291:Hermansky–Pudlak syndrome
1099:Maple syrup urine disease
1071:Maple syrup urine disease
839:Maple syrup urine disease
712:on Genetic Home Reference
283:Shaw K, Bachur R (2016).
200:in cultured fibroblasts.
152:tyrosine aminotransferase
35:
26:
2122:Transplantation medicine
2013:Clinical neurophysiology
1930:Obstetric anesthesiology
1850:Interventional radiology
1610:Digestive system surgery
781:Glutaric acidemia type 1
387:Nelson D, Cox M (2013).
327:10.1177/2326409817744230
189:, which is considered a
1993:Intensive care medicine
1967:Mass gathering medicine
1812:Maternal–fetal medicine
1287:Oculocutaneous albinism
357:Grompe M (2016-12-20).
1585:Cardiothoracic surgery
1406:translocase deficiency
1150:Methylmalonic acidemia
932:Glycine encephalopathy
215:
111:
2236:Personalized medicine
2095:Reproductive medicine
2020:Occupational medicine
1974:Evolutionary medicine
1436:Solute carrier family
751:amino acid metabolism
213:
105:
2256:Traditional medicine
2216:Alternative medicine
2083:Addiction psychiatry
1897:Transfusion medicine
1892:Medical microbiology
1807:Gynecologic oncology
1659:Reproductive surgery
1297:Waardenburg syndrome
1247:Tyrosinemia type III
1002:Prolidase deficiency
162:Type III tyrosinemia
2278:History of medicine
2261:Veterinary medicine
2068:Preventive medicine
1920:Adolescent medicine
1762:Infectious diseases
1502:Fumarase deficiency
1242:Tyrosinemia type II
902:D-Glyceric acidemia
857:Hypertryptophanemia
834:Isovaleric acidemia
144:Type II tyrosinemia
130:fumarylacetoacetate
108:autosomal recessive
2226:Molecular oncology
2183:Doctor of Medicine
2173:Master of Medicine
2090:Radiation oncology
1962:Emergency medicine
1915:Addiction medicine
1882:Clinical chemistry
1877:Clinical pathology
1669:Transplant surgery
1627:Orthopedic surgery
1605:Colorectal surgery
1237:Tyrosinemia type I
1160:Propionic acidemia
1127:Hypermethioninemia
796:Pipecolic acidemia
666:External resources
542:10.1007/BF01537237
287:. Wolters Kluwer.
216:
132:can accumulate in
118:Type I tyrosinemia
112:
2344:
2343:
2178:Master of Surgery
2142:
2141:
2127:Tropical medicine
2073:Prison healthcare
1988:Hospital medicine
1952:Disaster medicine
1942:Aviation medicine
1757:Hospital medicine
1664:Surgical oncology
1649:Pediatric surgery
1643:
1590:Endocrine surgery
1515:
1514:
1507:Trimethylaminuria
1417:
1416:
1413:
1412:
1337:
1336:
1333:
1332:
1168:
1167:
1032:
1031:
979:Urocanic aciduria
940:
939:
865:
864:
700:
699:
398:978-1-4292-3414-6
154:. As a result of
62:
61:
16:Medical condition
2369:
2334:
2333:
2324:
2314:
2313:
2304:
2303:
2294:
2293:
1998:Medical genetics
1983:General practice
1860:Nuclear medicine
1735:Gastroenterology
1691:Vascular surgery
1641:
1568:
1542:
1535:
1528:
1519:
1462:Fanconi syndrome
1349:
1325:Brunner syndrome
1193:
1180:
1117:Cystathioninuria
1049:
957:
890:
876:
768:
740:
733:
726:
717:
576:
564:
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553:
521:
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363:www.uptodate.com
354:
339:
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280:
242:Liver transplant
225:low-protein diet
58:
57:
49:Medical genetics
31:
19:
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2368:
2367:
2366:
2347:
2346:
2345:
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2282:
2271:Chief physician
2204:
2149:
2138:
2132:Travel medicine
2117:Sports medicine
2100:Sexual medicine
2040:Palliative care
2035:Pain management
1979:Family medicine
1957:Diving medicine
1903:
1831:
1793:
1786:
1702:
1695:
1654:Plastic surgery
1600:General surgery
1580:Cardiac surgery
1561:
1559:
1551:
1546:
1516:
1511:
1475:
1450:Iminoglycinuria
1445:Hartnup disease
1426:
1409:
1359:
1329:
1301:
1277:Ocular albinism
1255:
1214:
1197:Phenylketonuria
1164:
1131:
1103:
1075:
1042:
1028:
1006:
997:Hyperprolinemia
983:
952:α-ketoglutarate
950:
936:
927:GAMT deficiency
861:
843:
805:
801:Saccharopinuria
774:/straight chain
753:
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187:succinylacetone
183:
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100:
73:is an error of
52:
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11:
5:
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2209:Related topics
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2158:Medical school
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2112:Sleep medicine
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1925:Anesthesiology
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1855:Neuroradiology
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1792:Obstetrics and
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1674:Trauma surgery
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1637:Otolaryngology
1634:
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1607:
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1563:subspecialties
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1371:
1370:
1357:Hyperammonemia
1346:
1339:
1338:
1335:
1334:
1331:
1330:
1328:
1327:
1321:
1315:
1313:
1311:Norepinephrine
1303:
1302:
1300:
1299:
1294:
1284:
1269:
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1201:
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1163:
1162:
1157:
1152:
1146:
1144:
1133:
1132:
1130:
1129:
1124:
1122:Homocystinuria
1119:
1113:
1111:
1105:
1104:
1102:
1101:
1096:
1091:
1085:
1083:
1077:
1076:
1074:
1073:
1068:
1063:
1061:Hypervalinemia
1057:
1055:
1046:
1034:
1033:
1030:
1029:
1027:
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1020:
1018:
1008:
1007:
1005:
1004:
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991:
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845:
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842:
841:
836:
831:
826:
821:
815:
813:
807:
806:
804:
803:
798:
793:
791:Hyperlysinemia
788:
783:
777:
775:
765:
755:
754:
745:
743:
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728:
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713:
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580:
579:Classification
572:
571:External links
569:
566:
565:
516:
488:
459:(1–2): 67–75.
439:
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294:978-1451193954
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2241:Public health
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2221:Allied health
2219:
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2207:
2199:
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2128:
2125:
2123:
2120:
2118:
2115:
2113:
2110:
2106:
2103:
2102:
2101:
2098:
2096:
2093:
2091:
2088:
2084:
2081:
2080:
2079:
2076:
2074:
2071:
2069:
2066:
2063:
2060:
2058:
2055:
2051:
2048:
2047:
2046:
2043:
2041:
2038:
2036:
2033:
2031:
2030:Oral medicine
2028:
2026:
2025:Ophthalmology
2023:
2021:
2018:
2014:
2011:
2010:
2009:
2006:
2004:
2001:
1999:
1996:
1994:
1991:
1989:
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1980:
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1972:
1968:
1965:
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1955:
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1950:
1948:
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1943:
1940:
1936:
1933:
1931:
1928:
1927:
1926:
1923:
1921:
1918:
1916:
1913:
1912:
1910:
1906:
1898:
1895:
1893:
1890:
1888:
1887:Cytopathology
1885:
1883:
1880:
1878:
1875:
1873:
1870:
1869:
1868:
1865:
1861:
1858:
1856:
1853:
1851:
1848:
1847:
1846:
1843:
1842:
1840:
1838:
1834:
1828:
1827:Urogynecology
1825:
1823:
1820:
1818:
1815:
1813:
1810:
1808:
1805:
1803:
1800:
1799:
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1755:
1753:
1750:
1748:
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1733:
1731:
1730:Endocrinology
1728:
1726:
1723:
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1718:
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1712:
1709:
1708:
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1698:
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1569:
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1434:
1433:
1431:
1429:
1424:
1420:
1407:
1403:
1400:
1398:
1395:
1393:
1392:Citrullinemia
1390:
1388:
1385:
1383:
1380:
1378:
1375:
1373:
1368:
1365:
1364:
1363:
1358:
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1326:
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1285:
1282:
1278:
1274:
1271:
1270:
1268:
1266:
1262:
1258:
1252:
1251:Hawkinsinuria
1248:
1245:
1243:
1240:
1238:
1235:
1233:
1229:
1226:
1225:
1223:
1221:
1217:
1211:
1208:
1206:
1203:
1202:
1200:
1198:
1194:
1191:
1189:
1185:
1184:Phenylalanine
1181:
1178:
1176:
1171:
1161:
1158:
1156:
1153:
1151:
1148:
1147:
1145:
1143:
1139:
1134:
1128:
1125:
1123:
1120:
1118:
1115:
1114:
1112:
1110:
1106:
1100:
1097:
1095:
1092:
1090:
1087:
1086:
1084:
1082:
1078:
1072:
1069:
1067:
1064:
1062:
1059:
1058:
1056:
1054:
1050:
1047:
1045:
1040:
1039:propionyl-CoA
1035:
1025:
1022:
1021:
1019:
1017:
1013:
1009:
1003:
1000:
998:
995:
994:
992:
990:
986:
980:
977:
975:
972:
970:
967:
966:
964:
962:
958:
955:
953:
948:
943:
933:
930:
928:
924:
920:
917:
916:
913:
910:
908:
905:
903:
900:
899:
897:
895:
891:
888:
886:
882:
877:
874:
872:
868:
858:
855:
854:
852:
850:
846:
840:
837:
835:
832:
830:
827:
825:
822:
820:
817:
816:
814:
812:
808:
802:
799:
797:
794:
792:
789:
787:
784:
782:
779:
778:
776:
773:
769:
766:
764:
760:
756:
752:
748:
741:
736:
734:
729:
727:
722:
721:
718:
711:
708:
706:
703:
702:
692:
688:
687:
683:
681:
677:
676:
672:
671:
668:
664:
657:
653:
652:
648:
646:
642:
641:
637:
635:
632:
629:
625:
624:
620:
618:
614:
613:
609:
605:
603:
599:
598:
594:
590:
589:
586:
581:
577:
570:
561:
557:
552:
547:
543:
539:
535:
531:
527:
520:
517:
504:
503:
498:
492:
489:
484:
480:
475:
470:
466:
462:
458:
454:
450:
443:
440:
435:
431:
427:
423:
419:
415:
408:
405:
400:
394:
390:
383:
381:
379:
375:
364:
360:
353:
351:
349:
347:
345:
341:
328:
323:
319:
315:
311:
304:
301:
296:
290:
286:
279:
276:
269:
265:
262:
260:
257:
255:
252:
251:
247:
245:
243:
239:
238:phenylalanine
235:
230:
226:
218:
212:
208:
206:
201:
199:
194:
192:
191:pathognomonic
188:
180:
175:
173:
171:
167:
163:
159:
157:
153:
149:
145:
141:
139:
135:
131:
127:
123:
119:
115:
109:
104:
97:
95:
92:
88:
84:
80:
76:
72:
69:
66:
56:
50:
47:
45:
41:
38:
34:
30:
25:
20:
2246:Rural health
2231:Nanomedicine
1782:Rheumatology
1713: /
1632:Hand surgery
1617:Neurosurgery
1344:oxaloacetate
1228:Alkaptonuria
1219:
1044:succinyl-CoA
974:Histidinemia
969:Carnosinemia
912:Sarcosinemia
747:Inborn error
684:
673:
649:
638:
621:
606:
591:
536:(1): 153–7.
533:
529:
519:
509:, retrieved
501:
491:
456:
452:
442:
420:(3): 605–7.
417:
413:
407:
388:
366:. Retrieved
362:
331:. Retrieved
317:
313:
303:
284:
278:
254:Alkaptonuria
222:
204:
202:
197:
195:
184:
165:
160:
155:
147:
142:
125:
121:
116:
113:
71:tyrosinaemia
70:
64:
63:
2316:Wikiproject
2105:Venereology
2050:Neonatology
1947:Dermatology
1802:Gynaecology
1794:gynaecology
1777:Pulmonology
1595:Eye surgery
1557:Specialties
1377:Argininemia
1220:Tyrosinemia
710:Tyrosinemia
691:Tyrosinemia
138:hepatocytes
65:Tyrosinemia
22:Tyrosinemia
2351:Categories
2078:Psychiatry
2064:(PM&R)
2057:Phlebology
2045:Pediatrics
1872:Anatomical
1837:Diagnostic
1817:Obstetrics
1767:Nephrology
1752:Hematology
1747:Geriatrics
1740:Hepatology
1725:Cardiology
1715:Immunology
1471:Cystinosis
1440:Cystinuria
1353:Urea cycle
1232:Ochronosis
1109:Methionine
1081:Isoleucine
849:Tryptophan
763:acetyl-CoA
686:Patient UK
651:DiseasesDB
511:2016-07-12
368:2018-02-23
320:(1): 1–4.
270:References
264:Ochronosis
234:hereditary
229:nitisinone
77:, usually
75:metabolism
2266:Physician
2150:education
2008:Neurology
2003:Narcology
1867:Pathology
1845:Radiology
1720:Angiology
1684:Andrology
1428:IE of RTT
1423:Transport
1367:aspartate
1323:reverse:
1016:glutamine
1012:Glutamate
961:Histidine
947:glutamate
675:eMedicine
219:Treatment
176:Diagnosis
44:Specialty
2296:Category
1772:Oncology
1703:medicine
1701:Internal
1549:Medicine
1362:arginine
1307:Tyrosine
1273:Albinism
1261:Tyrosine
1188:tyrosine
1175:fumarate
1136:General
923:Creatine
881:pyruvate
680:ped/2339
483:25066104
434:23036342
333:12 March
248:See also
110:pattern.
83:tyrosine
37:Tyrosine
2336:Outline
2306:Commons
2251:Therapy
2148:Medical
1711:Allergy
1679:Urology
1572:Surgery
1265:Melanin
989:Proline
919:Glycine
894:Glycine
885:citrate
811:Leucine
645:D020176
560:2153069
551:2974306
474:4533100
2326:Portal
2193:MD–PhD
1053:Valine
1024:SSADHD
786:type 2
772:Lysine
634:276710
631:276600
628:276700
558:
548:
481:
471:
432:
395:
291:
91:kidney
79:inborn
51:
1908:Other
1480:Other
656:13478
617:270.2
602:E70.2
506:(PDF)
181:Types
98:Cause
87:liver
640:MeSH
623:OMIM
612:9-CM
556:PMID
479:PMID
430:PMID
393:ISBN
335:2019
289:ISBN
136:and
89:and
1642:ENT
1560:and
749:of
608:ICD
593:ICD
546:PMC
538:doi
469:PMC
461:doi
457:113
422:doi
418:107
322:doi
205:HPD
198:TAT
166:HPD
156:TAT
148:TAT
126:FAH
122:FAH
2353::
1981:/
1464::
1438::
1342:G→
1275::
1173:G→
1142:OA
1138:BC
1037:G→
945:G→
925::
879:G→
689::
678::
654::
643::
626::
615::
600::
597:10
554:.
544:.
534:35
532:.
528:.
499:,
477:.
467:.
455:.
451:.
428:.
416:.
377:^
361:.
343:^
316:.
312:.
240:.
68:or
1541:e
1534:t
1527:v
1425:/
1404:/
1369:)
1360:(
1355:/
1309:→
1293:)
1289:(
1283:)
1281:1
1279:(
1263:→
1249:/
1230:/
1186:/
1140:/
1041:→
1014:/
949:→
921:→
883:→
871:G
761:→
759:K
739:e
732:t
725:v
610:-
595:-
585:D
562:.
540::
485:.
463::
436:.
424::
401:.
371:.
337:.
324::
318:5
297:.
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
