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1 . Academic Journal
Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy
저자
by
David G. Jackson
;
Rebecca L. Koch
;
Surekha Pendyal
;
Robert Benjamin
;
Priya S. Kishnani
.
소스
JIMD Reports, Vol 64, Iss 5, Pp 303-311 (2023)
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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)
Full Text (ScienceDirect)
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7 . Academic Journal
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource
저자
by
Koch, Rebecca L.
;
Soler-Alfonso, Claudia
;
Kiely, Bridget T.
;
Asai, Akihiro
;
Smith, Ariana L.
, et al.
소스
In
Molecular Genetics and Metabolism
March 2023 138(3)
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7 . Academic Journal
O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV
저자
by
Rebecca Koch
;
Claudia Soler-Alfonso
;
Bridget Kiely
;
Akihiro Asai
;
Ariana Smith
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100114- (2023)
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7 . Academic Journal
The interplay of psychosis and non‐compliance with fatal outcome in an adult with MSUD.
저자
by
Falah, Nadia
;
Pendyal, Surekha
;
Sasannejad, Cina
;
Gibson, Allison
;
Lee, Yu Lin
, et al.
소스
American Journal of Medical Genetics. Part A; Sep2024, Vol. 194 Issue 9, p1-5, 5p
Web of Science
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7 . Academic Journal
Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia
저자
by
William B. Hannah
;
Ricardo C. Ong
;
Margarita Nieto Moreno
;
Surekha Pendyal
;
Monica Abdelmalak
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100848- (2022)
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7 . Academic Journal
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III
저자
by
Ghada Hijazi
;
Anna Paschall
;
Sarah P. Young
;
Brian Smith
;
Laura E. Case
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100821- (2021)
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7 . Academic Journal
Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring
저자
by
Halaby, Carine A.
;
Young, Sarah P.
;
Austin, Stephanie
;
Stefanescu, Ela
;
Bali, Deeksha
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 21(12):2686-2694
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7 . Academic Journal
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
저자
by
Kishnani, Priya S.
;
Goldstein, Jennifer
;
Austin, Stephanie L.
;
Arn, Pamela
;
Bachrach, Bert
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 21(4):772-789
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7 . Academic Journal
Role of continuous glucose monitoring in the management of glycogen storage disorders
저자
by
Herbert, Mrudu
;
Pendyal, Surekha
;
Rairikar, Mugdha
;
Halaby, Carine
;
Benjamin, Robert W.
, et al.
소스
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism
. 41(6):917-927
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