565
KAZUISTIKY42522701004696138190209248289309356404
Deficiencia42533701004581100118148163198236267282317
adenozín-deaminázy75833701003472107145184214230267293332367402462477515549581619
2.139333701003349
typu145833701002564102140
(DADA2)161533701002064106153196232252
–1883337010038
prvé193733701003762100135
skúsenosti208833701002863101130165203242271299315
na241933701003772
Slovensku:25073370100365291127161199228262300316
kazuistiky283933701003369101138153182210226260298
25419622701003671114
|350227010018
VNITŘNÍ4268043010746106127172220280301
LÉKAŘSTVÍ748804301074185130188236280325378400
/11948043010731
Vnitř1270804301074693112140166
Lék.1456804301074083122140
2024;70(4):246-2541615804301074487129169183224266291332353368412452498528566610655
/23158043010732
www.casopisvnitrnilekarstvi.cz442680430107651332012142542953293774274464795215705896176436927117307748128548809159449871007102310631101
9.4255530853548
National486554083447697112149187218233
Center7315540834073110131164185
for928554083185576
Biotechnology1016554083355087108141173210248285300338376408
Information.1436554083155270107128185217238253290328341
ClinVar;1789554083395468105139169190203
[VCV000120303.32]2004554083195796134167203238269298332364398430442477509526
[Internet].254255408318347192125145183218239256268
[cited2822554083184762425654083215594
20225326540833467100134
May6796540835486117
24].80865408334668496
Available9166540834171104119134166204220254
from:1183654083184077135147
https://www.ncbi.nlm.nih.gov/clinvar/variation/120303/134365408337588212114816018620725731036337441244448249851154956462163467368872573877681484686989791292796599610281049107211041137115811731205122612411279131713431375140514391471150615381562
10.425753085356883
National520754083447697111148186218232
Center7647540834073110131164184
for960754083185576
Biotechnology1048754083355087108141173210247285300337376407
Information.1467754083155270107128185216238252289327340
ClinVar;1819754083395468105139169189202
[VCV000956376.3]2033754083195796133167202238272305339372403434447481498
[Internet].254375408318347192124145183217239255267
[cited2822754083184762425854083215594
20225328540833367100134
May6798540835486116
23].80885408334688597
Available9178540834171104118133165204220254
from:1184854083184076134146
https://www.ncbi.nlm.nih.gov/clinvar/variation/956376/134385408337588212114716018620625731036237341144348249751054856362063367268672473777581384486789691192696399410261047107011021135115511711202122412391276131413401374140714411475150615381563
11.425953085356475
Richards511954083354980116147166203228
S,7509540833243
Aziz804954083407084111
N,9269540834456
Bale993954083346680113
S,11179540833243
et11719540833455
al.1236954083324657
Standards1304954083325283120157188207244269
and15849540833167105
Guidelines1699954083438094131164179192229262287
for1997954083185474
the2082954083225891
Interpretation2184954083155171104123161182214235266287301337374
of25699540833654
Sequence26349540833265103139173209240272
Variants:4251054083366686101132170190217229
A665105408341
Joint7181054083246176113134
Consensus86310540834076114140174211237273299
Recommendation117310540833569101137195252286323362393414429466503
of168810540833756
the17551054083225993
American186010540834198132152167198231268
College21391054083407691106140178213
of236310540833756
Medical243010540835589128142173205220
Genetics266110540834479116150171186217244
and42511540833269107
Genomics54611540834479116154211226257284
and84411540833269107
the9651154083225993
Association10721154083416894132164178210231245282320
for14061154083185576
Molecular149611540835592107142174211225257277
Pathology.17871154083356687125162178215254285295
Genet209511540834479116151172
Med.228111540835489128140
2015;17(5):405-24.24351154083346899128138167196212245262273307342376397427459470
12.4251253085366783
Infevers.5211254083155271105137171192219233
ADA276612540834187126161
sequence94012540832661100137172210242275
variants12281254083316485100132170191218
[Internet].1459125408319347293127148186221243260272
[cited1743125408319496486119159
2023191412540833468101135
May206212540835486117
7].21911254083345567
Available227012540834171104119134166205221255
from:25381254083184077135147
https://26971254083385983122149161188208
infevers.umai-montpellier.fr/web/search.php?n=20425135408315537110613817219422123427233036237739945849753555659663164766267771273374376378580885989493395898210171049107011011139115211921231127012951332137514071441
13.4251453085366883
Jee5241454083245995
H,63414540834457
Huang70714540834481114152191
Z,91314540833851
Baxter9801454083356899124158179
S,117414540833346
et123514540833456
al.13071454083324760
Comprehensive138214540834077136175196230269304342368383415450
analysis184714540833270102118149176191217
of208014540833756
ADA2215214540834187126162
genetic233014540833873111146168183215
variants25611454083316486101133171193220
and279714540833270109
estimation425155408334618499157189211226264303
of74615540833757
carrier8211554083316485107123157179
frequency10181554083184075114152187225257290
driven13271554083385974107141179
by152515540833870
a1613155408332
function-based16631554083195795127152167205243266306339365400440
approach.212115540833271111132169202235273286
J2425155408324
Allergy24681554083415671106127165198
Clin26841554083405570108
Immunol.28101554083157342516540835795133171187200
2022;149(1):379-87.64016540833569102136149179210243262294308320355387421444480513519
14.4251753085366883
Maccora52117540835486118149185207239
I,77317540831527
Maniscalco81317540835486124139164196229244276312
V,113817540833544
Campani119517540833972129168201238253
S,146117540833245
et151817540833456
al.15871754083314659
A1659175408340
wide171217540835066104139
spectrum186317540832665100132156177215273
of214817540833756
phenotype221717540833877111149187209242281317
of254617540833756
deficiency26151754083387290107138153188225257290
of42518540833757
deaminase49718540833873105163178216248274309
2822185408334
(DADA2):87118540831965104150190226244255
a1142185408332
systematic11891854083265986109142200233254270302
literature1506185408315305286107140162200221255
review.17771854083205487102137188199
Orphanet199118540834769109147180218253275
J2281185408324
Rare23211854083356889123
Dis.24591854083466187101
2023;18:117.257518540833469101136148178209221251278308314
15.4251953085356780
Rakesh5171954083356695128154191
Kumar72019540833470126157178
P,90919540833539
Aaqib96019540834071109124161
Zaffar11331954083376988106139159
B,130419540833446
Saniya136219540833264101115146177
S,155119540833244
et160719540833355
al.16731954083324658
Deficiency17431954083457996112143157191228259291
of204619540833755
Human211319540834380136167204
Adenosine232919540834077111148185210224261295
Deaminase26361954083447810916518021624842520540832660
Type4972054083336099134
2643205408334
-689205408321
A722205408341
Diagnostic7752054083456091129167204230253268299
Conundrum108720540833975113150187226246284341
for14402054083185576
the15292054083215893
Hematologist.163420540834478135167188224240277316331356379392
Front20382054083325188125146
Immunol.219720540831471128165202240255268
2022;13:869570.247720540833467100134146175204215250284317351384416428
16.4252153085366985
Belot5302154083357186124146
A,69621540834155
Wassmer77121540835789115142199234256
E,104721540833245
Twilt11122154083338095111133
M,126521540835468
et135321540833456
al.14292154083314760
Mutations150921540835492115147169184222261287
in181621540831553
CECR1188821540834073113149181
associated20892154083325985123156171203225259298
with24072154083516689127
a2554215408332
neutrophil260521540833873111133155192231270285300
signature4252254083264180118150172210231265
in70522540831553
peripheral7732254083397496111150189224245278293
blood.10822254083385492131171184
Pediatr128122540833569108124156177199
Rheumatol149522540833574109147204237258295311
Online182222540834785101116153188
J.202622540832436
2014;12:44.207822540833468100131143173203215250287299
17.4252353085366876
Caorsi51823540834073111133160175
R,70923540833549
Penco77423540833569107139176
F,96623540833238
Grossi102023540834465103129156171
A,120723540834155
et127823540833456
al.13502354083324760
ADA2142623540834187127163
deficiency16052354083387390107139154189227259293
(DADA2)191423540831864104150189225243
as217323540833258
an224723540833270
unrecognised23332354083377597131163200240278293319354393
cause274323540833164101127162
of42524540833757
early4982454083346687103135
onset65024540833776102137159
polyarteritis8262454083397894125158179204238259275297312339
nodosa118124540833876116154181214
and141224540833270109
stroke:15382454083264970107138172185
a1740245408331
multicentre178824540835895111133148180214252274295329
national21342454083377092107145183216231
study.23822454083264987126158168
Ann256724540834179117
Rheum270124540833574109146204
Dis.4252554083456187101
2017;76(10):1648-56.54125540833468100129139172204223254286304316346377414450472506541554
18.3047553085366985
Lee31525540833166101
PY,3272554083357079
Davidson33705540834578109125164190228267
BA,3656554083357690
Abraham37665540834180102135173205263
RS,4048554083366982
et41495540833457
al.4225554083324760
Evaluation4304554083336598113151183205220258296
and46205540833270109
Management47485540835487125157196231289324362384
of51515540833757
Deficiency5227554083458198115147162197235267301
of30476540833757
Adenosine31246540834180115153191218233271306
Deaminase34516540834580112170186224256283318
2:37896540833547
An38576540834179
International3956654083155375109130169201223238277315348363
Consensus43396540834078116143178216242280306
Statement.4665654083335487109143201236274296309
JAMA49956540832464120162
Netw51776540834580103156
Open.53536540834787123161174
2023;6(5):e2315894.30477540833468101136147183202236254266300335370400431465499535547
19.3047853085366882
Ombrello314285408347105144166200215230268
AK,3423854083417791
Qin35278540834763101
J,36418540832436
Hoffmann36908540834482102121179211249287
PM,39908540833589102
et41058540833456
al.4174854083324760
Treatment4247854083335084116137195230268290
Strategies4550854083325375107129163202217252279
for4842854083185677
Deficiency4932854083458198115147162197235267300
of52458540833757
Adenosine531485408341801141521913047954083264179114
Deaminase31769540834581113171186224256282317
2.35099540833446
N357195408344
Engl36319540833270109124
J377195408324
Med.38109540835590129142
2019;380(16):1582-4.39689540833468100130143178212247267299330348360390420454487508544557
20.30471053085367287
Thorarinsdottir315010540833372110132165186201239266305343365389404426
K,359110540833550
Camponeschi365610540834073131170209247282309341379394
A,406610540834155
Cavallini413710540834072104137152167182220235
N,438810540834557
et446110540833456
al.45331054083324760
CD21–/low460910540833985117149182207223261312
B4937105408335
cells4988105408331658095121
in512510540831552
human519310540833875133165203
blood54121054083395493304711540833777
are31391154083325387
memory324111540835893151189211245
cells.3501115408331658196122135
Clin36521154083395570108
Exp377511540833265105
Immunol.389511540831572130168206244260273
2016;185(2):252-62.418311540833569100132144174205239257291308320356390424444481515527
21.30471253085367082
Yap314212540833565104
JY,32591254083246069
Moens334112540835493128166193
L,354712540833145
Lin36051254083314785
MW,3703125408354112122
et383812540833456
al.39071254083324760
Intrinsic3981125408314527495111149175190222
Defects421612540834581100134167191219
in444812540831553
B4514125408335
Cell45621254083407490105
Development468012540834581113147163201241299334372393
and508712540833169109
Differentiation,520912540834561809913415518922724926429630471354083213774112125
T3184135408332
Cell32291354083407388103
Exhaustion334513540833264102134172197220235273311
and366913540833169107
Altered37891354083415678111132166205
Unconventional400713540834380112149187218251289310325363401433448
T4468135408332
Cell45131354083397388103
Generation462813540834479117151172205226241279317
Characterize495713540834077109130163194218252273288317350
Human532013540834481138170208
Adenosine304714540834179114152191217232270305
Deaminase336714540834681113171186224256283318
Type370014540833260100136
23851145408334
Deficiency.39001454083468199116148163197236268301311
J4227145408324
Clin42661454083405570108
Immunol.438914540831573131168206245261273
2021;41(8):1915-35.467814540833468101132141175206221254272284314344376406428461494506
22.30471553085377592
Schnappauf316115540833367107146180221262297336356
O,353915540834961
Zhou362215540833978118158
Q,380215540834863
Moura388715540835696136158193
NS,41021554083468093
et421715540833559
al.42981554083334963
Deficiency438315540834783102119153169205245279314
of471915540833858
Adenosine480015540834282118158198226242281318
Deaminase514015540834683117177193232266294330
25492155408336
(DADA2):304716540831964104150190225243255
Hidden33221654083445998137172210
Variants,35521654083356788103135173195223236
Reduced380716540833671110148180214253
Penetrance,408016540833568106141164185218256288322334
and443416540833169108
Unusual456216540834482119146183215230
Inheritance.48121654083155391126147163185218256288322334
J5166165408324
Clin52091654083405671108
Immunol.53371654083157313116830471754083387692105
2020;40(6):917-26.316717540833468101135148183219238272290302337369398417448481494
23.30471853085377794
Hashem316618540834581110151189250
H,344118540834661
Bucciol352718540833677112146163204223
G,377418540834561
Ozen386018540834881118159
S,404418540833348
et411718540833560
al.42021854083335066
Hematopoietic429318540834583145180204244287329346384409427462
Cell47791854083417896114
Transplantation49181854083335389130159201219254295319355379397438480
Cures54221854083428130471954083215888
Adenosine316019540834284122163204234251292330
Deaminase351519540834785120182199240276305343
23883195408335
Deficiency:394419540834685106125160177215256291328344
Report431319540833674117159183210
on454919540833880
30465419540833573
Patients.47521954083367195113151192216247262
J5040195408325
Clin50901954083415976117
Immunol.523319540831576138178220261279295
2021;41(7):1633-47.304720540833470104137146183214231267288301332365400434457496529537
24.30472153085367186
Hashem315321540834476103141176234
H,340621540834457
Dimitrova348221540834661119134157178215247280
D,378221540834556
Meyts385721540835590121146174
I.405021540831528
Allogeneic40982154083415671109149184222257272304
Hematopoietic442121540834479137170191228268307322357379394426
Cell48672154083407489104
Transplantation49912154083324982120147186202234272293326348363401440
for54502154083185678
Patients30472254083356788103138175197224
With32842254083577395133
Deficiency34292254083468198115147161196234266299
of374022540833756
Adenosine380922540834179113151189216230268303
Deaminase412422540834580112169184222254280315
24451225408334
(DADA2):449822540831964103149188224241253
Approaches,476422540834180119140177210242279314341353
Obstacles513022540834786113136168200215250276
and541922540833269108
Special304723540833271107140155187202
Considerations.326423540834077116142157196231252285307322360398425438
Front37182354083325289127149
Immunol.388223540831573131168206245260273
2022;13:932385.417123540833468101136148178208219254287320355389423435
25.30472453085367287
Elbracht31502454083334887108141173211233
M,339824540835568
Mull348224540835492107122
M,362024540835468
Wagner370324540835789128166201222
N,394024540834558
et401324540833457
al.40852454083324760
Stroke41602454083335476113143178
as435324540833258
Initial4427245408314526790105137153
Manifestation459524540835487125140159194221244277298314352390
of500024540833857
Adenosine507224540834180115153191218232270305
Deaminase539324540834580112304725540835772110143169204
23266255408335
Deficiency.33162554083458198115147162197235267301311
Neuropediatrics.364225540834580118139176216251291306338360381397429456470
2017;48(2):111-4.412725540833468100130139174210229263281293323350378397433446
ODBORNÝ38876029013353109164218272331378
GARANT:42856029013351105158212270315335
prof.3886616101314471114139158
MUDr.40616161013166116164192209
Michal4287616101316686119164204225
Vrablík,4529616101314672112156177196238260
Ph.D.4806616101314488109158176
III.38866291013122436485
interní398862910131216593132159205225
klinika423062910131396180125145183224
1.4471629101314260
LF4548629101313876
UK4641629101315094
a47526291013141
VFN4810629101314684134
v49616291013139
Praze5017629101314471111146185
POŘADATEL:38876447013350106159214269320361406450476
SOLEN,4380644901314089127165216236
s.4633644901313254
r.4704644901312744
o.4766644901314262
PARTNER3407971012153114172228299353411
POČET4357421019689201295375459
KREDITŮ4357581019693184267376418500606
2109973050541246
Registrace16267410018485162248285346399450525592667
ZDARMA16267593018687191285372499598
TERMÍN25907428019684165256388430538
září25907609013347101137162
202327757609013357112165220
až25907739013353100
srpen2714773901334378141196257
202429957739013356111164216
dostupný25907869013362122165202262324385434
na30477869013361114
online.solen.cz25907995013763128159189253312340390453484543608637687740
On-line3404667050329253166578589911361348
kurz176746670503230466625817
Kardiologie34049780992491900118916531859230625142962342036254033
ONLINE34243480227131262328430486617721
KURZ110243480227116245360472
PŘEDNÁŠKY4486026014555110156214275329377430483
4486222013490
Co589620501454797
je703620501452775
u7956205014554
nových8666205014555105150199235290
tabulek1172620501453888140194219268317
SCORE1506620501454793148202247
opravdu17706205014552104138188233284337
důležité?21246205014553106132181221247283331367
Modelové25076205014577127180228255305350398
situace2921620501453965101154203240289
v5896355014547
ordinaci653635501455286139165219268305331
a10016355014551
jak1068635501452777125
je1210635501452776
řešit1302635501453685122147184
–15036359014160
MUDr.15796359014169118166191205
Jaromír180063590141306791131199216240
Ožana,2056635901415185123165202219
MUDr.22926359014169118165190204
Michal2513635901416986118161198216
Mačák27466359014169106139177213
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Speciality589653301454799148186212262287313349397
v10026533014548
léčbě1067653301452775113166215
hypertenze1299653301455599152201236274322376417465
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doc.1857653801414485119138
MUDr.20116538014169118166191205
Ondřej2232653801415194137161198215
Petrák,2464653801414379105130168204223
Ph.D.2703653801414486104152167
4486729013490
Aktuality5896712014555103141194244269295331379
a9856712014550
praktické1052671201455488137186224250287336384
tipy1452671201453863116160
v16296712014547
léčbě1693671201452776113167215
dyslipidemie19256712014554100138163189242267320368449474523
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MUDr.25416716014169118166191205
Eva2762671601414076113
Tůmová,2891671601414080148188224261279
Ph.D.3186671601414486104152167
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Co589689001454797
(ne)budeme703689001453180129155208261313362442491
potřebovat12116890014554104140174224276327372421457
od16856890014551104
biochemické1806689001455379129167222270351376414463510
laboratoře2333689001452777129180214263299349383432
pro589704001455488139
stanovení745704001453975125179229274322376401
kardiovaskulárního1163704001455099133186212263307357394443496522572606660686742792
rizika?1972704001453561102128176226261
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prof.2326704501414469109130147
MUDr.24897045014169118166190204
Michal2710704501416986118161198217
Vrablík,2943704501414870108150169185224244
Ph.D.3203704501414486104152167