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1 . Academic Journal
Seizure Characteristics and EEG Features in Intoxication Type and Energy Deficiency Neurometabolic Disorders in the Pediatric Intensive Care Unit: Single-Center Experience Over 10 Years
저자
by
Sen, Kuntal
;
Harrar, Dana
;
Pariseau, Nicole
;
Tucker, Karis
;
Keenan, Julia
, et al.
소스
Neurocritical Care
. :1-11
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7 . Academic Journal
Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders
저자
by
Schulze, Andreas
;
Ficicioglu, Can
;
Harding, Cary O.
;
Lam, Christina
;
Coughlin, Curtis R., 2nd
, et al.
소스
In
Molecular Genetics and Metabolism
September-October 2024 143(1-2)
Full Text (ScienceDirect)
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7 . Academic Journal
Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises
저자
by
Chanvanichtrakool, Mongkol
;
Schreiber, John M.
;
Chen, Wei-Liang
;
Barber, John
;
Zhang, Anqing
, et al.
소스
In
Pediatric Neurology
October 2024 159:48-55
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7 . Academic Journal
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
저자
by
Mew, Nicholas Ah
;
Seminara, Jennifer
;
Burrage, Lindsay C.
;
Berry, Gerard T.
;
Breilyn, Margo
, et al.
소스
In
Genetics in Medicine
April 2024 26(4)
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7 . Academic Journal
Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database
저자
by
Kuntal Sen
;
Rima Izem
;
Yuelin Long
;
Jiji Jiang
;
Laura L. Konczal
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
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7 . Academic Journal
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities
저자
by
Bacino, Carlos A.
;
Balasubramanyam, Ashok
;
Burrage, Lindsay C.
;
Chao, Hsiao-Tuan
;
Chinn, Ivan
, et al.
소스
In
Genetics in Medicine
September 2024 26(9)
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7 . Academic Journal
Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders
저자
by
Schulze, Andreas
;
García-Cazorla, Angeles
;
Ficicioglu, Can
;
Harding, Cary O.
;
Lam, Christina
, et al.
소스
In
Molecular Genetics and Metabolism
March 2024 141(3)
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7 . Academic Journal
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
저자
by
Borras, Silvia
;
Clark, Caroline
;
Dean, John
;
Miedzybrodzka, Zosia
;
Ross, Alison
, et al.
소스
In
Genetics in Medicine
February 2024 26(2)
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7 . Academic Journal
P204: Primary care electronic medical record features predicting genetics referrals
저자
by
Cristal Hernandez Hernandez
;
Nhat Duong
;
Andrea Cohen
;
Elmer Rajah
;
Eric Vilain
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101101- (2024)
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7 . Academic Journal
The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones
저자
by
Acosta, Maria T.
;
Adams, David R.
;
Afzali, Ben
;
Al-Beshri, Ali
;
Allworth, Aimee
, et al.
소스
In
Genetics in Medicine
October 2024 26(10)
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