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1 .
A prospective study on continuous glucose monitoring in glycogen storage disease type Ia
저자
by
Alessandro Rossi
;
Annieke Venema
;
Petra Haarsma
;
Lude Feldbrugge
;
Rob Burghard
, et al.
소스
Journal of Clinical Endocrinology and Metabolism, 107(9). ENDOCRINE SOC
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7 .
Enantiomer‐specific pharmacokinetics of D,L‐3‐hydroxybutyrate: Implications for the treatment of multiple acyl‐CoA dehydrogenase deficiency
저자
by
Willemijn J. van Rijt
;
Derk P. Allersma
;
Dirk-Jan Reijngoud
;
Maaike H. Oosterveer
;
Rick Havinga
, et al.
소스
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 44(4), 926-938. SPRINGER
Journal of inherited metabolic disease, 44(4), 926-938. Springer Netherlands
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7 .
Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease typeIIIaare phenotype-specific
저자
by
Kieran Clarke
;
Jeroen A. L. Jeneson
;
Ulrike Steuerwald
;
Caroline J. van Der Schaaf
;
Irene J. Hoogeveen
, et al.
소스
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 44(1), 226-239. SPRINGER
Open Access (OpenAIRE)
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7 .
Dietary lipids in glycogen storage disease type III
저자
by
A. Bordugo
;
Irene J Hoogeveen
;
Surekha Pendyal
;
Foekje de Boer
;
Chiara Montanari
, et al.
소스
Journal of Inherited Metabolic Disease, 43(4), 770-777. SPRINGER
Journal of Inherited Metabolic Disease
Open Access (OpenAIRE)
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7 .
Research priorities for liver glycogen storage disease
저자
by
Lut de Baere
;
Katherine Cowan
;
Marcus Landgren
;
Thomas Casswall
;
Niccolò Seidita
, et al.
소스
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 43(2), 279-289. SPRINGER
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7 .
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency
저자
by
Austin Larson
;
Carolyn Ellaway
;
Michel Tchan
;
Jerry Vockley
;
Eva Morava
, et al.
소스
Genetics in Medicine
Genet. Med. 22, 908–916 (2020)
Genetics in Medicine, 22(5), 908-916. Nature Publishing Group
van Rijt, Willemijn J; Jager, Emmalie A; Allersma, Derk P; Aktuğlu Zeybek, A Çiğdem; Bhattacharya, Kaustuv; Debray, François-Guillaume; Ellaway, Carolyn J; Gautschi, Matthias; Geraghty, Michael T; Gil-Ortega, David; Larson, Austin A; Moore, Francesca; Morava, Eva; Morris, Andrew A; Oishi, Kimihiko; Schiff, Manuel; Scholl-Bürgi, Sabine; Tchan, Michel C; Vockley, Jerry; Witters, Peter; ... (2020). Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. Genetics in medicine, 22(5), pp. 908-916. Springer Nature 10.1038/s41436-019-0739-z
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7 .
Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment
저자
by
Terry G J Derks
;
David A. Weinstein
;
Jerry Vockley
;
Steven F. Dobrowolski
;
Ruben Bonilla Guerrero
, et al.
소스
Mol Genet Metab
Molecular Genetics and Metabolism, 128(1-2), 1-9. ACADEMIC PRESS INC ELSEVIER SCIENCE
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7 .
Changes in pediatric plasma acylcarnitines upon fasting for refined interpretation of metabolic stress
저자
by
Willemijn J. van Rijt
;
Francjan J. van Spronsen
;
Terry G J Derks
;
Rixt M. van der Ende
;
Catharina M L Volker-Touw
, et al.
소스
Molecular Genetics and Metabolism, 127(4), 327-335. ACADEMIC PRESS INC ELSEVIER SCIENCE
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7 .
A retrospective in-depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management
저자
by
Rob Burghard
;
Melanie M. van der Klauw
;
Maaike H. Oosterveer
;
Irene J Hoogeveen
;
R Lude Feldbrugge
, et al.
소스
Journal of Inherited Metabolic Disease, 44(5), 1136-1150. SPRINGER
Journal of Inherited Metabolic Disease
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7 .
Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report
저자
by
Giancarlo Parenti
;
Simona Fecarotta
;
Maria D'Armiento
;
Pietro Strisciuglio
;
Carmine Mollica
, et al.
소스
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-9 (2021)
Italian journal of pediatrics, 47(1):149, 1-9. BMC
Italian Journal of Pediatrics
Open Access (BioMed Central)
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