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1 . Academic Journal
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b
저자
by
Grünert, Sarah C.
;
Gautschi, Matthias
;
Baker, Joshua
;
Boyer, Monica
;
Burlina, Alberto
, et al.
소스
In
Molecular Genetics and Metabolism
June 2024 142(2)
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7 . Academic Journal
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop
저자
by
Grünert, Sarah C.
;
Derks, Terry G.J.
;
Mundy, Helen
;
Dalton, R. Neil
;
Donadieu, Jean
, et al.
소스
In
Molecular Genetics and Metabolism
March 2024 141(3)
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7 . Academic Journal
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
저자
by
Sharma, Reena
;
Hastings, Caroline
;
Staretz-Chacham, Orna
;
Raiman, Julian
;
Paucar, Martin
, et al.
소스
In
Molecular Genetics and Metabolism Reports
September 2023 36
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7 . Academic Journal
Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency
저자
by
Andelman-Gur, Michal M.
;
Saitsu, Hirotomo
;
Matsumoto, Naomichi
;
Spiegel, Ronen
;
Yosovich, Keren
, et al.
소스
In
European Journal of Medical Genetics
December 2020 63(12)
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7 . Academic Journal
The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis
저자
by
Ben-David, Yael
;
Halevy, Rephael
;
Sakran, Waheeb
;
Zehavi, Yoav
;
Spiegel, Ronen
.
소스
In
European Journal of Medical Genetics
October 2019 62(10)
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7 . Academic Journal
Transport®NPC: open phase 3 global trial of intravenous hydroxy-propyl-beta-cyclodextrin in patients with Niemann-Pick disease type C1 (NPC1)
저자
by
Hastings, Caroline A.
;
Goker-Alpan, Ozlem
;
Pena, Loren
;
Bayarri, Jordi Gascon
;
Martin-Hernandez, Elena
, et al.
소스
In
Molecular Genetics and Metabolism
February 2024 141(2)
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7 . Academic Journal
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy
저자
by
Zehavi, Yoav
;
Mandel, Hanna
;
Zehavi, Arie
;
Rashid, Muhammad Abu
;
Straussberg, Rachel
, et al.
소스
In
European Journal of Medical Genetics
June 2017 60(6):317-320
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7 . Academic Journal
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization
저자
by
Aharoni, Sharon
;
Sadeh, Menachem
;
Shapira, Yehuda
;
Edvardson, Simon
;
Daana, Muhannad
, et al.
소스
In
Neuromuscular Disorders
February 2017 27(2):136-140
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7 . Academic Journal
Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co‐regulate proteasomes and mitochondria.
저자
by
Al Rawi, Sara
;
Simpson, Lorna
;
Agnarsdóttir, Guðrún
;
McDonald, Neil Q.
;
Chernuha, Veronika
, et al.
소스
FEBS Journal
. Mar2024, p1. 25p. 8 Illustrations, 1 Chart.
Full Text (Wiley)
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7 . Academic Journal
Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality.
저자
by
Abu Hanna, Firas
;
Zehavi, Yoav
;
Cohen-Barak, Eran
;
Khayat, Morad
;
Warwar, Nasim
, et al.
소스
Orphanet Journal of Rare Diseases
. 2/28/2024, Vol. 19 Issue 1, p1-11. 11p.
Open Access (BioMed Central)
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