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1 . Academic Journal
3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.
저자
by
Hertzog, Ashley
;
Selvanathan, Arthavan
;
Pandithan, Dinusha
;
Kim, Won‐Tae
;
Kava, Maina P.
, et al.
소스
Journal of Inherited Metabolic Disease Reports; Nov2022, Vol. 63 Issue 6, p568-574, 7p
Open Access (Wiley)
Scopus
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7 . Academic Journal
Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency.
저자
by
Kava, Maina P.
;
Bryant, Leah
;
Rowe, Peter
;
Lewis, Barry
;
Greed, Lawrence
, et al.
소스
Journal of Inherited Metabolic Disease Reports; Jul2020, Vol. 54 Issue 1, p9-15, 7p
Open Access (Wiley)
Scopus
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7 . Academic Journal
Ketogenic diet, a potentially valuable therapeutic option for the management of refractory epilepsy in classical neonatal nonketotic hyperglycinemia: a case report.
저자
by
Kava, Maina P.
;
Robertson, Annie
;
Greed, Lawrence
;
Balasubramaniam, Shanti
.
소스
European Journal of Clinical Nutrition; Jun2019, Vol. 73 Issue 6, p961-965, 5p, 1 Black and White Photograph, 1 Graph
Web of Science
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6 . Academic Journal
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome
저자
by
Lewis, Hannah
;
Samanta, Debopam
;
Orsell, Jenny-Li
;
Bosanko, Katherine A.
;
Rowell, Amy
, et al.
소스
PEDIATRIC NEUROLOGY
; NOV 2020, 112 p94-p100, 7p.
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7 . Periodical
Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia
저자
by
Nickerson, Sarah L.
;
Balasubramaniam, Shanti
;
Dryland, Philippa A.
;
Love, Jennifer M.
;
Kava, Maina P.
, et al.
소스
Journal of Pediatric Genetics; September 2016, Vol. 5 Issue: 3 p174-180, 7p
Scopus
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7 . Academic Journal
Down syndrome: : Clinical profile from India
저자
by
Kava, Maina P.
;
Tullu, Milind S.
;
Muranjan, Mamta N.
;
Girisha, K.M.
.
소스
Archives of Medical Research
. Jan2004, Vol. 35 Issue 1, p31. 5p.
Full Text (ScienceDirect)
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6 . Academic Journal
Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.
저자
by
Rius, Rocio
;
Compton, Alison G.
;
Baker, Naomi L.
;
Welch, AnneMarie E.
;
Coman, David
, et al.
소스
Genes
. Apr2021, Vol. 12 Issue 4, p607. 1p.
Web of Science
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7 . Academic Journal
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.
저자
by
Rius, Rocio
;
Van Bergen, Nicole J.
;
Compton, Alison G.
;
Riley, Lisa G.
;
Kava, Maina P.
, et al.
소스
Journal of Clinical Medicine
. Nov2019, Vol. 8 Issue 11, p2020-2020. 1p.
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7 . Academic Journal
Horner’s Syndrome in a Child With Otitis Media: An Unusual Complication
저자
by
Kava, Maina P.
;
Bynevelt, Michael
;
Lannigan, Francis
;
Nagarajan, Lakshmi
.
소스
Pediatric Neurology
. Sep2011, Vol. 45 Issue 3, p209-210. 2p.
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6 . Academic Journal
Cytomegalovirus-associated ileal stricture in a preterm neonate
저자
by
Srinivasjois, Ravisha M.
;
Kava, Maina P.
;
Thomas, Anitha
;
Rao, Shripada C.
.
소스
JOURNAL OF PAEDIATRICS AND CHILD HEALTH
; JAN-FEB 2008, 44 1-2, p80-p82, 3p.
Scopus
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