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PubPharm (276)
1
Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke-Like Episodes
enthalten in:
Indian journal of pediatrics
| 2024
von
Markose, A.
|
Gowda, V.
|
Reddy, V.
| +1
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2
Midfacial Toddler Excoriation syndrome (MiTES) : case series, diagnostic criteria and evidence for a pathogenic mechanism
enthalten in:
The British journal of dermatology
| 2024
von
Sarveswaran, N.
|
Pamela, Y.
|
Reddy, A.
| +20
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3
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2024
von
Kaiyrzhanov, R.
|
Ortigoza-Escobar, J.
|
Stringer, B.
| +27
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4
Drug Resistant Epilepsy (DRE) Secondary to 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (HADH) in Siblings
enthalten in:
Indian journal of pediatrics
| 2024
von
Gowda, V.
|
Reddy, V.
|
Krishnanada, V.
| +1
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5
Super-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency
enthalten in:
Indian journal of pediatrics
| 2024
von
Gowda, V.
|
Siddiqa, A.
|
Srinivasan, V.
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6
Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy : Authors' Reply
enthalten in:
Indian journal of pediatrics
| 2024
von
Gowda, V.
|
Babu, S.
|
Kinhal, U.
| +1
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7
KCTD7-related progressive myoclonic epilepsy : Report of 42 cases and review of literature
enthalten in:
Epilepsia
| 2024
von
Yoganathan, S.
|
Whitney, R.
|
Thomas, M.
| +30
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8
Lack of association of Stevens-Johnson syndrome/toxic epidermal necrolysis due to aromatic anticonvulsants and HLA-B alleles in South Indian children
enthalten in:
International journal of dermatology
| 2024
von
Srinivas, S.
|
Gowda, V.
|
Gowdra, A.
| +2
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9
Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy
enthalten in:
Indian journal of pediatrics
| 2024
von
Gowda, V.
|
Babu, S.
|
Kinhal, U.
| +1
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10
Biallelic variation in the choline and ethanolamine transporter
FLVCR1
underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
enthalten in:
bioRxiv.org
| 2024
von
Calame, D.
|
Wong, J.
|
Panda, P.
| +60
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Indian journal of pediatrics
25
Indian pediatrics
19
Journal of pediatric neurosciences
12
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6
Annals of Indian Academy of Neurology
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Journal of neurosciences in rural practice
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Indian Pediatrics
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Iranian journal of child neurology
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7
India
5
Dystonia
5
gene
4
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4
Antiepileptic drugs
4
Ataxia
4
Comment
4
Convulsions
4
Folinic acid
4
Genetic testing
4
Hereditary folate malabsorption
4
Hot-water epilepsy
4
Intracranial calcification
4
Karnataka, South India
4
Macrocytic anemia
4
Membrane Transport Proteins
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Erscheinungszeitraum
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2010-2019
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