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1 . 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
The functional impact of 1,570 individual amino acid substitutions in human OTC
저자
by
Lo, Russell S.
;
Cromie, Gareth A.
;
Tang, Michelle
;
Teng, Kevin
;
Owens, Katherine
, et al.
소스
In
The American Journal of Human Genetics
4 May 2023 110(5):863-879
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7 . Academic Journal
Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder
저자
by
Pickup, Elizabeth
;
Moore, Steven A.
;
Suwannarat, Pim
;
Grant, Christina
;
Ah Mew, Nicholas
, et al.
소스
In
Pediatric Neurology
July 2024 156:178-181
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7 . Academic Journal
Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders.
저자
by
Lichter-Konecki, Uta
;
Sanz, Jacqueline H.
;
Ah Mew, Nicholas
;
Baumgartner, Matthias R.
;
Bedoyan, Jirair K.
, et al.
소스
Pediatric Research; Dec2023, Vol. 94 Issue 6, p2005-2015, 11p
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7 . Book
Chapter 61 - Urea cycle disorders
저자
by
Rossignol, Francis
;
Ah Mew, Nicholas
;
Meltzer, Meira R.
;
Gropman, Andrea L.
.
소스
In
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
Edition: Sixth Edition. 2020:827-848
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6 . Academic Journal
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.
저자
by
Scharre, Svenja
;
Posset, Roland
;
Garbade, Sven F.
;
Gleich, Florian
;
Seidl, Marie J.
, et al.
소스
Annals of Clinical & Translational Neurology
. Nov2022, Vol. 9 Issue 11, p1715-1726. 12p.
Open Access (Wiley)
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7 . Academic Journal
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
저자
by
Kumble, Smitha
;
Levy, Amanda M.
;
Punetha, Jaya
;
Gao, Hua
;
Ah Mew, Nicholas
, et al.
소스
Human Mutation; Feb2022, Vol. 43 Issue 2, p266-282, 17p
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7 .
List of contributors
저자
by
Ah Mew, Nicholas
;
Akamatsu, Wado
;
Akman, Hasan Orhan
;
AlHakeem, Afnan
;
Aoyama, Koji
, et al.
소스
In
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
Edition: Sixth Edition. 2020:xvii-xx
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7 . Academic Journal
Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening.
저자
by
Peretz, Ryan H.
;
Ah Mew, Nicholas
;
Vernon, Hilary J.
;
Ganetzky, Rebecca D.
.
소스
Molecular Genetics & Metabolism
. Sep2021, Vol. 134 Issue 1/2, p37-42. 6p.
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6 . Academic Journal
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
저자
by
Summerlin, Maxwell L.
;
Regier, Debra S.
;
Fraser, Jamie L.
;
Chapman, Kimberly A.
;
Kafashzadeh, Dariush
, et al.
소스
American Journal of Medical Genetics. Part A; Feb2021, Vol. 185 Issue 2, p500-507, 8p
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