309:
224:
346:
339:
375:
332:
239:
52:
51:
has been described in northeastern
Finland and is due to a mutation in gene SLC17A5 on chromosome 6q4-15. The "French type sialuria" (
114:
250:
370:
290:
180:
155:
156:"Sialuria, French type | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
110:
102:
64:
60:
27:
316:
32:
76:
365:
130:
359:
48:
68:
255:
308:
44:
233:
261:
105:. In Lomas, David; Silverman, Edwin; Weiss, Scott; Shapiro, Steven (eds.).
285:
216:
72:
228:
266:
244:
56:
315:
This article about a disease of the genitourinary system is a
101:
Hersh, Craig P.; De Meo, Dawn L.; Silverman, Edwin K. (2005).
43:
is a group of disorders resulting in an accumulation of free
320:
59:), is a very rare condition presenting in infancy with
206:
96:
94:
92:
276:
210:
26:
21:
79:, dehydration and characteristic facial features.
340:
8:
103:"10. Chronic obstructive pulmonary disease"
347:
333:
207:
18:
47:. One type, known as the Finnish type or
88:
7:
305:
303:
53:Online Mendelian Inheritance in Man
319:. You can help Knowledge (XXG) by
14:
307:
131:"Sialuria: MedlinePlus Genetics"
109:. Hodder Arnold. p. 265.
75:, recurrent chest infections,
1:
392:
376:Genitourinary system stubs
302:
160:rarediseases.info.nih.gov
181:"Orphanet: Sialuria"
107:Respiratory Genetics
277:External resources
328:
327:
300:
299:
61:failure to thrive
38:
37:
16:Medical condition
383:
349:
342:
335:
311:
304:
208:
196:
195:
193:
191:
177:
171:
170:
168:
166:
152:
146:
145:
143:
141:
127:
121:
120:
98:
33:Medical genetics
19:
391:
390:
386:
385:
384:
382:
381:
380:
356:
355:
354:
353:
301:
296:
295:
272:
271:
219:
205:
200:
199:
189:
187:
179:
178:
174:
164:
162:
154:
153:
149:
139:
137:
135:medlineplus.gov
129:
128:
124:
117:
100:
99:
90:
85:
73:low blood count
17:
12:
11:
5:
389:
387:
379:
378:
373:
368:
358:
357:
352:
351:
344:
337:
329:
326:
325:
312:
298:
297:
294:
293:
281:
280:
278:
274:
273:
270:
269:
258:
247:
236:
220:
215:
214:
212:
211:Classification
204:
203:External links
201:
198:
197:
172:
147:
122:
115:
87:
86:
84:
81:
65:yellowish skin
36:
35:
30:
24:
23:
15:
13:
10:
9:
6:
4:
3:
2:
388:
377:
374:
372:
371:Disease stubs
369:
367:
364:
363:
361:
350:
345:
343:
338:
336:
331:
330:
324:
322:
318:
313:
310:
306:
292:
288:
287:
283:
282:
279:
275:
268:
264:
263:
259:
257:
253:
252:
248:
246:
242:
241:
237:
235:
231:
230:
226:
222:
221:
218:
213:
209:
202:
186:
185:www.orpha.net
182:
176:
173:
161:
157:
151:
148:
136:
132:
126:
123:
118:
112:
108:
104:
97:
95:
93:
89:
82:
80:
78:
74:
70:
66:
62:
58:
54:
50:
49:Salla disease
46:
42:
34:
31:
29:
25:
20:
321:expanding it
314:
284:
260:
249:
238:
223:
188:. Retrieved
184:
175:
163:. Retrieved
159:
150:
138:. Retrieved
134:
125:
116:0-340-814322
106:
77:bowel upsets
40:
39:
69:large liver
45:sialic acid
360:Categories
190:10 January
165:10 January
140:10 January
83:References
267:238051008
262:SNOMED CT
28:Specialty
286:Orphanet
55:(OMIM):
41:Sialuria
22:Sialuria
256:D029461
245:269921
113:
57:269921
366:Urine
234:E77.8
317:stub
291:3166
251:MeSH
240:OMIM
192:2021
167:2021
142:2021
111:ISBN
225:ICD
362::
289::
265::
254::
243::
232::
229:10
183:.
158:.
133:.
91:^
71:,
67:,
63:,
348:e
341:t
334:v
323:.
227:-
217:D
194:.
169:.
144:.
119:.
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.