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Molybdenum Cofactor Deficiency
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Prader-Willi and Angelman Syndromes
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Leukotriene C4-synthesis Deficiency:A New Inborn Error of Metabolism Linked to a Fatal Developmental Syndrome
Lancet 352:1514-1517,1487, Mayatepek,E.&Flock.B., 1998
Congenital AIDS:Review of Neurological Problems
Child's Nerv Syst 5:9-11, Curles,R.G., 1989
Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
Ann Neurol 18:560-566, Belman,A.L.,et al, 1985
Alexander's Disease, A Disease of Astrocytes
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Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
A Floppy Child with Failure to Thrive
Lancet 366:176, Loma-Sanner,I.,et al, 2005
Physical Features of Prader-Willi Syndrome in Neonates
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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The Cornelia de Lange Syndrome
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