Weiter zum Inhalt
Toggle navigation
English
English
Favoritenliste (
0
)
(Voll)
Kontakt
Mein Konto
Abmeldung
Mein Konto
Suche
Erweiterte Suche
Suchverlauf
Struktursuche
Narrative Service
Drug Overviews
Info Guide
/vufind/Search/Results?lookfor=%22Staretz%E2%80%90Chacham%2C+Orna%22&type=Person&sort=year
/vufind/Search/Results?lookfor=%22Staretz%E2%80%90Chacham%2C+Orna%22&type=Person&sort=year
Search /vufind/Search2/Results?lookfor=%22Staretz%E2%80%90Chacham%2C+Orna%22&type=Person&sort=year
PubPharm (68)
1
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation
enthalten in:
Journal of inherited metabolic disease
| 2023
von
Safran, A.
|
Proskorovski-Ohayon, R.
|
Eskin-Schwartz, M.
| +11
Wird geladen...
2
Continuous Renal Replacement Therapy for Hyperammonemia Beyond Infancy
enthalten in:
The Israel Medical Association journal : IMAJ
| 2023
von
Cavari, Y.
|
Yermiahu, O.
|
Staretz Chacham, O.
| +3
Wird geladen...
3
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia
enthalten in:
Journal of inherited metabolic disease
| 2023
von
Daas, S.
|
Abu Salah, N.
|
Anikster, Y.
| +26
Wird geladen...
4
Hereditary orotic aciduria identified by newborn screening
enthalten in:
Frontiers in genetics
| 2023
von
Staretz-Chacham, O.
|
Damseh, N.
|
Daas, S.
| +21
Wird geladen...
5
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia
enthalten in:
Journal of Inherited Metabolic Disease
| 2023
von
Daas, S.
|
Abu Salah, N.
|
Anikster, Y.
| +26
Wird geladen...
6
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation
enthalten in:
Journal of Inherited Metabolic Disease
| 2023
von
Safran, A.
|
Proskorovski‐Ohayon, R.
|
Eskin‐Schwartz, M.
| +11
Wird geladen...
7
Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1 : Results of an international 48-week Phase I/II trial
enthalten in:
Molecular genetics and metabolism reports
| 2023
von
Sharma, R.
|
Hastings, C.
|
Staretz-Chacham, O.
| +8
Wird geladen...
8
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects
enthalten in:
Journal of medical genetics
| 2022
von
Bolkier, Y.
|
Barel, O.
|
Marek-Yagel, D.
| +23
Wird geladen...
9
Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement
enthalten in:
Children (Basel, Switzerland)
| 2022
von
Kraus, D.
|
Abdelrahim, H.
|
Waisbourd-Zinman, O.
| +3
Wird geladen...
10
What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?
enthalten in:
Molecular syndromology
| 2022
von
Liber, S.
|
Staretz-Chacham, O.
|
Kishon, M.
| +7
Wird geladen...
1
2
3
4
5
6
7
Nächster »
[7]
Filter & Sortierung
Treffer pro Seite
10
20
50
Sortieren
Relevanz
Neueste zuerst
Älteste zuerst
Verfasser
Zeitschriftentitel
Bibliothek
Standort (Printmedien)
Verwandte Substanzen
Verwandte Substanzen werden ermittelt...
Verwandte Erkrankungen/Symptome
Verwandte Erkrankungen/Symptome werden ermittelt...
Verwandte Gene
Verwandte Gene werden ermittelt...
Systematic Reviews
Clinical Studies
Patente
Covid-19/SARS-CoV-2
Exclude Systematic Reviews
Exclude Clinical Studies
Exclude Patents
Medienart
68
Aufsätze
53
E-Artikel
53
E-Ressourcen
15
Gedruckte Aufsätze
Zeitschriftentitel
8
Journal of inherited metabolic disease
4
American journal of medical genetics. Part A
4
American journal of obstetrics & gynecology
4
European journal of pediatrics
4
Journal of Inherited Metabolic Disease
4
The journal of maternal-fetal & neonatal medici...
3
American Journal of Medical Genetics Part C: Se...
3
Molecular genetics and metabolism
3
Pediatric nephrology
2
Frontiers in genetics
2
Frontiers in pediatrics
2
Human mutation
2
Journal of medical case reports
2
Orphanet journal of rare diseases
2
Pediatrics
2
The Israel Medical Association journal : IMAJ
2
The journal of maternal-fetal & neonatal medicine
1
American journal of medical genetics. Part B, N...
1
Children (Basel, Switzerland)
1
Clinical Genetics
Alle anzeigen ...
weniger ...
Thema
37
Journal Article
10
Research Support, Non-U.S. Gov't
5
Case Reports
4
Acute kidney injury
4
Carnitine
4
Cholesterol trafficking
4
Monogenic diseases
4
Niemann-Pick C1 disease
4
Pulmonary involvement
4
Respiratory failure
4
Review
4
Rhabdomyolysis
4
Whole exome sequencing
3
Biotinidase
3
Free Carnitine
3
Mutation
3
Newborn Screening
3
Research Support, N.I.H., Extramural
3
Urinary Organic Acid
2
29VT07BGDA
Alle anzeigen ...
weniger ...
Erscheinungszeitraum
31
2020-
34
2010-2019
3
2000-2009
Erscheinungsjahr(e)
Von:
Bis:
Sprache
52
Englisch
Haven't found what you're looking for?
Wird geladen...