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European Journal of Clinical Nutrition
|
August 16, 2018
Ketogenic diet, a potentially valuable therapeutic option for the management of refractory epilepsy in classical neonatal nonketotic hyperglycinemia: a case report
Maina P Kava, Annie Robertson, Lawrence Greed, et al.
Journal of Paediatrics and Child Health
|
December 19, 2007
Cytomegalovirus-associated ileal stricture in a preterm neonate
Ravisha M Srinivasjois, Maina P Kava, Anitha Thomas, et al.
Archives of Medical Research
|
March 24, 2004
Down syndrome: clinical profile from India
Maina P Kava, Milind S Tullu, Mamta N Muranjan, et al.
JIMD Reports
|
July 21, 2020
Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency
Maina P Kava, Leah Bryant, Peter Rowe, et al.
Journal of Pediatric Genetics
|
September 13, 2016
Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia
Sarah L Nickerson, Shanti Balasubramaniam, Philippa A Dryland, et al.
JIMD Reports
|
November 7, 2022
3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis
Ashley Hertzog, Arthavan Selvanathan, Dinusha Pandithan, et al.
Neurology and Therapy
|
April 27, 2025
Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in Australian Hospitals
Ian R Woodcock, Didu S Kariyawasam, Maina P Kava, et al.
Genes
|
April 30, 2021
Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases
Rocio Rius, Alison G Compton, Naomi L Baker, et al.
Journal of Clinical Medicine
|
November 23, 2019
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic <i>PNPT1</i> Variants
Rocio Rius, Nicole J Van Bergen, Alison G Compton, et al.
Pediatric Neurology
|
May 25, 2020
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome
Hannah Lewis, Debopam Samanta, Jenny-Li Örsell, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
European Journal of Clinical Nutrition
|
August 16, 2018
Ketogenic diet, a potentially valuable therapeutic option for the management of refractory epilepsy in classical neonatal nonketotic hyperglycinemia: a case report
Maina P Kava, Annie Robertson, Lawrence Greed, et al.
Journal of Paediatrics and Child Health
|
December 19, 2007
Cytomegalovirus-associated ileal stricture in a preterm neonate
Ravisha M Srinivasjois, Maina P Kava, Anitha Thomas, et al.
Archives of Medical Research
|
March 24, 2004
Down syndrome: clinical profile from India
Maina P Kava, Milind S Tullu, Mamta N Muranjan, et al.
JIMD Reports
|
July 21, 2020
Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency
Maina P Kava, Leah Bryant, Peter Rowe, et al.
Journal of Pediatric Genetics
|
September 13, 2016
Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia
Sarah L Nickerson, Shanti Balasubramaniam, Philippa A Dryland, et al.
JIMD Reports
|
November 7, 2022
3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis
Ashley Hertzog, Arthavan Selvanathan, Dinusha Pandithan, et al.
Neurology and Therapy
|
April 27, 2025
Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in Australian Hospitals
Ian R Woodcock, Didu S Kariyawasam, Maina P Kava, et al.
Genes
|
April 30, 2021
Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases
Rocio Rius, Alison G Compton, Naomi L Baker, et al.
Journal of Clinical Medicine
|
November 23, 2019
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic <i>PNPT1</i> Variants
Rocio Rius, Nicole J Van Bergen, Alison G Compton, et al.
Pediatric Neurology
|
May 25, 2020
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome
Hannah Lewis, Debopam Samanta, Jenny-Li Örsell, et al.
Page
of 2