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1 . Academic Journal
Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients
저자
by
Christoff Odendaal
;
Emmalie A. Jager
;
Anne-Claire M. F. Martines
;
Marcel A. Vieira-Lara
;
Nicolette C. A. Huijkman
, et al.
소스
BMC Biology, Vol 21, Iss 1, Pp 1-22 (2023)
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7 . Academic Journal
Patient‐reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study
저자
by
Sarah C. Grünert
;
Annieke Venema
;
Jamas LaFreniere
;
Blair Schneider
;
Enrique Contreras
, et al.
소스
JIMD Reports, Vol 64, Iss 3, Pp 252-258 (2023)
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7 . Academic Journal
Abnormal glucose homeostasis and fasting intolerance in patients with congenital porto-systemic shunts
저자
by
Mirjam E. van Albada
;
Pratik Shah
;
Terry G. J. Derks
;
Sabine Fuchs
;
Judith J. M. Jans
, et al.
소스
Frontiers in Endocrinology, Vol 14 (2023)
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7 . Academic Journal
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
저자
by
Abigail Veldman
;
M. B. Gea Kiewiet
;
Dineke Westra
;
Annet M. Bosch
;
Marion M. G. Brands
, et al.
소스
International Journal of Neonatal Screening, Vol 9, Iss 4, p 56 (2023)
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7 . Academic Journal
A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient‐reported outcome measures
저자
by
Annieke Venema
;
Fabian Peeks
;
Marlies deBruijn‐van der Veen
;
Foekje deBoer
;
Marieke J. Fokkert‐Wilts
, et al.
소스
JIMD Reports, Vol 63, Iss 1, Pp 29-40 (2022)
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7 . Academic Journal
Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots
저자
by
Allysa M. Dijkstra
;
Pim de Blaauw
;
Willemijn J. van Rijt
;
Hanneke Renting
;
Ronald G. H. J. Maatman
, et al.
소스
International Journal of Neonatal Screening, Vol 9, Iss 3, p 34 (2023)
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7 . Academic Journal
Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report
저자
by
Alessandro Rossi
;
Erasmo Miele
;
Simona Fecarotta
;
Maria Veiga-da-Cunha
;
Massimo Martinelli
, et al.
소스
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-9 (2021)
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7 . Academic Journal
A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia
저자
by
Vaneisse C. L. Monteiro
;
Bibiana M. de Oliveira
;
Bruna B. dos Santos
;
Fernanda Sperb-Ludwig
;
Lilia F. Refosco
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
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7 . Academic Journal
Dynamic Methods for Childhood Hypoglycemia Phenotyping: A Narrative Review
저자
by
Alessandro Rossi
;
Martijn G. S. Rutten
;
Theo H. van Dijk
;
Barbara M. Bakker
;
Dirk-Jan Reijngoud
, et al.
소스
Frontiers in Endocrinology, Vol 13 (2022)
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7 . Academic Journal
Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib
저자
by
Sarah C. Grünert
;
Roland Elling
;
Bärbel Maag
;
Saskia B. Wortmann
;
Terry G. J. Derks
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)
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