A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
A 6-Year-Old Boy with Muscle Twitching
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A Teenager with Shortness of Breath and Difficulty Walking
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
A 10-Year-Old Girl with Muscle Stiffness
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Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Wilson Disease
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
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Inherited Metabolic Diseases of the Nervous System, Neuronal Ceroid Lipofuscinosis (Batten Disease)
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Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
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Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
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Diagnostic and Classification Criteria of Takayasu Arteritis
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Cognitive Delay in a 7-year-old Girl
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Practice Parameter: Pharmacologic Treatment of Spasticity in Children and Adolescents with Cerebral Palsy (an Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Unexplained Seizures in an Infant
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Epilepsy in Children with Infantile Thiamine Deficiency
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The Floppy Infant: Evaluation of Hypotonia
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Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Intravenous Sodium Valproate Versus Diazepam Infusion for the Control of Refractory Status Epilepticus in Children: A Randomized Controlled Trial
J Child Neurol 22:1191-1197, Mehta,V.,et al, 2007
Human Botulism Immune Globulin for the Treatment of Infant Botulism
NEJM 354:462-471, Arnon,S.S.,et al, 2006
A Floppy Child with Failure to Thrive
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Safety and Efficacy of Buccal Midazolam Versus Rectal Diazepam for Emergency Treatment of Seizures in Children: A Randomised Controlled Trial
Lancet 366:205-210,182, McIntyre,J.,et al, 2005
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Comparison of Intranasal Midazolam with Intravenous Diazepam for Treating Febril Seizures in Children: Prospective Randomised Study
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Buccal Midazolam and Rectal Diazepam for Treatment of Prolonged Seizures in Childhood and Adolescence:A Randomised Trial
Lancet 353:623-626,650, Scott,R.C.,et al, 1999
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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Optimality Score for the Neurologic Examination of the Infant at 12 and 18 Months of Age
J Pediatr 135:153-161,140, Haataja,L.,et al, 1999
A Comparison of Rectal Diazepam Gell and Placebo for Acute Repetitive Seizures
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An Infant with Encephalitis
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Congenital Muscular Dystrophy with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
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Postoperative Neurologic Complications after Open Heart Surgery on Young Infants
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Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
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A Controlled Trial of Diazepam Administered During Febrile Illnesses to Prevent Recurrence of Febrile Seizures
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A Clinical Study of Noonan Syndrome
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Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
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Epilepsy in Children
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