A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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Acute Cortical Lesions in MELAS Syndrome: Anatomic Distribution, Symmetry, and Evolution
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Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
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Metabolic Disease and Stroke: MELAS
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Malignant Hyperthermia, Update on Susceptibility Testing
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Clinicopath Conf
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MELAS Syndrome Involving a Mother & Two Children
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
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AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Neonatal Seizures
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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Molybdenum Cofactor Deficiency
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
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Inherited Metabolic Diseases of the Nervous System, Galactosemia
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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, Infantile Gaucher Disease
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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Inherited Metabolic Diseases of the Nervous System, Metachromatic Leukodystrophy
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Inherited Metabolic Diseases of the Nervous System, Fabry Disease
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The Floppy Infant: Evaluation of Hypotonia
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Overview of Phenylketonuria
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Phenylketonuria
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Glycogen-Storage Disease Type II
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Coma in a Young Anorexic Woman
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Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Ornithine Transcarbamylase Deficiency Presenting with Strokelike Episodes
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Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
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Genetic Diagnosis of Gaucher's Disease
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Chronic Cardiomyopathy and WEakness or Acute Coma in Children with a Defect in Carnitine Uptake
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