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1
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Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.
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Am J Hum Genet
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1997
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2.27
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2
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Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.
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J Inherit Metab Dis
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2009
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1.52
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3
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Am J Clin Nutr
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1996
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1.47
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4
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Eur J Clin Nutr
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1.07
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Pediatrics
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1.06
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7
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Mol Genet Metab
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1.02
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8
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Adherence issues in inherited metabolic disorders treated by low natural protein diets.
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Ann Nutr Metab
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0.99
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9
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0.90
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10
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Am J Clin Nutr
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0.88
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11
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Main issues in micronutrient supplementation in phenylketonuria.
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Mol Genet Metab
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0.86
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12
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Dietary practices in pyridoxine non-responsive homocystinuria: a European survey.
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Mol Genet Metab
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0.84
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13
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Diet in phenylketonuria: a snapshot of special dietary costs and reimbursement systems in 10 international centers.
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Mol Genet Metab
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0.84
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Screening for the fragile X syndrome among the mentally retarded: a clinical study. The Collaborative Fragile X Study Group.
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J Med Genet
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Plasma phenylalanine in patients with phenylketonuria self-managing their diet.
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Arch Dis Child
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0.82
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16
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Dietary management of urea cycle disorders: European practice.
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Mol Genet Metab
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17
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The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration.
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Mol Genet Metab
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0.81
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18
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Severe non-type-1 Legionella pneumophila infection without pneumonia.
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Neth J Med
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2010
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0.78
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19
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Use of sapropterin in the management of phenylketonuria: seven case reports.
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Mol Genet Metab
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2012
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0.78
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20
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Biochemical Monitoring and Management During Pregnancy in Patients with Isovaleric Acidaemia is Helpful to Prevent Metabolic Decompensation.
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JIMD Rep
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2011
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0.76
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21
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[Standardized multidisciplinary diagnosis of cow's milk protein allergy in children. Work Group Cow's Milk Protein Allergy of the Groningen Academic Hospital].
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Ned Tijdschr Geneeskd
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0.75
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22
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TVZ
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0.75
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23
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Minimal Important Change and Minimal Detectable Change in Activities of Daily Living in Community-Living Older People.
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J Nutr Health Aging
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0.75
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