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Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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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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Neuroimaging Changes in Menkes Disease, Part 1
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Molybdenum Cofactor Deficiency
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A Floppy Child with Failure to Thrive
Lancet 366:176, Loma-Sanner,I.,et al, 2005
Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Leukotriene C4-synthesis Deficiency:A New Inborn Error of Metabolism Linked to a Fatal Developmental Syndrome
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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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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