Spinal Muscular Atrophy
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Congenital Cytomegalovirus Infection
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Fucosidosis Revisited:A Review of 77 Patients
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Rett Syndrome:Natural History and Management
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Clinicopathologic Conference, Infant Botulism, Case 3-2024
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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Genome Sequencing in the NICU and PICU is Here to Stay
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Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
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Human Botulism Immune Globulin for the Treatment of Infant Botulism
NEJM 354:462-471, Arnon,S.S.,et al, 2006
Case 35-2006: A Newborn Boy with Hypotonia
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A Floppy Child with Failure to Thrive
Lancet 366:176, Loma-Sanner,I.,et al, 2005
Prader-Willi and Angelman Syndromes
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Long-Term Neurologic Consequences of Nutritional Vitamin B12 Deficiency in Infants
J Pediatr 121:710-714, Graham,S.M.,et al, 1992
Infant Botulism:A Review of 12 Years'Experience at the Children; s Hosp of Phila
Pediatrics 87:159-165, Schreiner,M.S.,et al, 1991
Congenital Inflammatory Myopathy
Neurol 40:1111-1114, Shevell,M.,et al, 1990
Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
Clin genet 37:355-362, Clarke,J.T.,et al, 1990
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
Arch Neurol 37:300-305, Sarnatt,H.B.,et al, 1980
Hyperphenylalaninemia Due To A Deficiency of Biopterin
NEJM 299:673-679, Stanley,S.K.,et al, 1978
Prader-Willi-Syndrome, In Endocrine & Genetic Diseases of Childhood & Adolescence
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