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1 . Academic Journal
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
저자
by
Morales-Romero, Blai
;
Muñoz-Pujol, Gerard
;
Artuch, Rafael
;
García-Cazorla, Angels
;
O'Callaghan, Mar
, et al.
소스
In
Molecular Genetics and Metabolism
July 2024 142(3)
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7 . 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
Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially
저자
by
Della Marina, Adela
;
Bertolini, Annikki
;
Wegener-Panzer, Andreas
;
Flotats-Bastardas, Marina
;
Reinhardt, Tabea
, et al.
소스
In
European Journal of Paediatric Neurology
November 2022 41:27-35
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7 . Academic Journal
PIGG variant pathogenicity assessment reveals characteristic features within 19 families
저자
by
Tremblay-Laganière, Camille
;
Maroofian, Reza
;
Nguyen, Thi Tuyet Mai
;
Karimiani, Ehsan Ghayoor
;
Kirmani, Salman
, et al.
소스
In
Genetics in Medicine
October 2021 23(10):1873-1881
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7 . Academic Journal
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation
저자
by
Rymen, Daisy
;
Lindhout, Martijn
;
Spanou, Maria
;
Ashrafzadeh, Farah
;
Benkel, Ira
, et al.
소스
In
Genetics in Medicine
October 2020 22(10):1589-1597
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7 . Academic Journal
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
저자
by
Smith, Claire E. L.
;
Laugel-Haushalter, Virginie
;
Hany, Ummey
;
Best, Sunayna
;
Taylor, Rachel L.
, et al.
소스
Journal of Medical Genetics; Jul2024, Vol. 61 Issue 7, p689-698, 37p
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7 . Academic Journal
Response to Kulseth
저자
by
Vogel, Georg F.
;
Feichtinger, René G.
;
Mayr, Johannes A.
;
Wortmann, Saskia B.
.
소스
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Genetics in Medicine
March 2024 26(3)
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6 . Book
Chapter 25 - Mitochondrial DNA-encoded defects
저자
by
Wagner, Matias
;
Wortmann, Saskia B.
.
소스
In
Neurogenetics for the Practitioner
2024:389-396
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4 . Academic Journal
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear.
저자
by
Knöpfli, Stella
;
Goeschl, Bernadette
;
Zeyda, Maximilian
;
Baghdasaryan, Anna
;
Baumgartner-Kaut, Margot
, et al.
소스
International Journal of Neonatal Screening (IJNS); Jun2024, Vol. 10 Issue 2, p40, 12p
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