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Klinika pediatryczna nr 2022 - neurometabolizm
12307637
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Description
- STANY OSTRE WE WRODZONYCH CHOROBACH METABOLICZNYCH
Drgawki a dieta ketogenna we wrodzonych wadach metabolizmu
Ostra i przewlekła hiperamonemia – kiedy i dlaczego stosujemy kwas kargluminowy?
Zaburzenia świadomości w chorobachmetabolicznych na przykładach (hiperamonemie, acydurie organiczne)
CHOROBY LIZOSOMALNE WIEKU DORASTANIA
Choroby lizosomalne – wybrane postacie późne
Wybrane lizosomalne choroby spichrzeniowe – choroba Gauchera, mukopolisacharydoza typu II,
choroba Fabry’ego – przypadki kliniczne u pacjentów pediatrycznych
Mukopolisacharydoza typu I – dwaj bracia, jedna mutacja, dwie opcje terapeutyczne
Choroba Pompego – objawy kliniczne, diagnostyka, leczenie
MANIFESTACJE WIELONARZĄDOWEWEWRODZONYCH CHOROBACH METABOLICZNYCH
ChorobaWilsona u dzieci – obraz kliniczny, diagnostyka i leczenie
ChorobaWilsona okiem neurologa
GENETYKA KLINICZNA
Rola WES w diagnostyce wrodzonych chorób metabolicznych
Dysmorfologia we wrodzonych chorobach metabolicznych
Zachowania autystyczne w wybranych chorobach genetycznie uwarunkowanych – zaburzenia genomowe
INNE WAŻNE CHOROBY METABOLICZNE
Alkaptonuria – co lekarz wiedzieć powinien?
Fenyloketonuria – choroba na całe życie
Przełom w leczeniu glikogenozy 1b?
Product Details
18378
1230-7637
Data sheet
- Published in
- Warszawa
- Publication date
- 2022
- Issue number
- 1
- Cover
- soft
- Pages count
- 92
- Dimensions (mm)
- 210 x 295
- Weight (g)
- 310
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