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Fragile X syndrome: examination of issues pertaining to population-based screening
Abstract: Introduction: The fragile X syndrome is the most frequent cause of inherited mental retardation. Advances in understanding the molecular basis for this syndrome have elicited new prospects f...
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Kellen L. Meadows,
Stephanie L. Sherman
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175-192
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Urinary pregnanetriol-3-glucuronide excretion in neonates and the use of urinary pregnanetriol-3-glucuronide/creatinine ratio in differentiating 21-hydroxylase deficiency
Abstract: Introduction: A number of neonatal patients with 21-hydroxylase deficiency (21-OHD) have been discovered since the initiation of a nationwide mass screening program for congenital adrenal hy...
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S. Saisho,
Y. Yang,
T. Toyoura,
K. Shimozawa,
H. Takei,
M. Matsumoto,
A. Kambegawa
et al.
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193-203
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Use of the Guthrie bacterial inhibition assay to monitor blood phenylalanine for dietary treatment of phenylketonuria
Abstract: Introduction: The need to maintain blood phenylalanine levels in the range of 2–6 mg/dl (120–360 μM) for metabolic control in dietary treated phenylketonuria (PKU) requires weekly or biweekl...
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Frances J. Rohr,
Elizabeth N. Allred,
Melissa Turner,
Jane Simmons,
Harvey L. Levy
et al.
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205-211
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Neonatal screening for congenital hypothyroidism in Saudi Arabia: results of screening the first 1 million newborns
Abstract: Introduction: Since the initiation of pilot screening programs to detect congenital hypothyroidism (CH) in 1972, newborn screening has become routine in the developed world. A national scree...
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Nasir A.M. Al-Jurayyan,
Abdulrahman A. Al-Nuaim,
Mahmoud I. El-Desouki,
Abdullah S. Al Herbish,
Abdullah M. Abo Bakr,
Abdulrahman Al Swailem,
Yaqoub Y. Al Mazrou,
Abdullah Al Deress
et al.
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213-220
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Neuropsychological assessment in congenital hypothyroid children: importance of timing of replacement therapy
Abstract: Introduction: Early diagnosis by neonatal thyroid screening is crucial for intellectual and neuropsychological outcome of children with congenital hypothyroidism (CH). Nevertheless, numerous...
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Paola Battisti,
Angelo Franzese,
Lidia Moschini,
Antonella Olivieri,
Emanuela Medda,
Michele E. Grandolfo,
Giovanni Scuncio,
Pietro Costa,
Renato Lazzari,
Pierina Marciano,
Massimo D'Archivio,
Mariella Sorcini
et al.
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221-232
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Familial hypercholesterolemia in South Africa: to screen or not to screen? A national perspective
Abstract: Introduction: A review of available data shows familial hypercholesterolemia (FH) to be very common in South Africa: about 62000 existing cases and about 1100 new cases added to this pool ea...
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H.W. Hitzeroth
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233-245
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Assessing genetic risks — implications for health and social policy: response from the Newborn Screening Committee of the Council of Regional Networks for Genetic Services
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F.J. Meaney,
S. Kinney,
S. Kling,
G. Landenburger,
S. Panny,
M. Schwartz,
R. Heidenreich,
B.L. Therrell,
C. Brokopp,
J. Eckman,
M. Glass,
W.H. Hannon,
F. Lorey,
K.A. Pass,
E. Shapira
et al.
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247-249
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Neonatal screening in the context of early discharge in Spain
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Jose R. Alonso-Fernandez
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251-253
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Italian Society of Neonatal Screening
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R. Cerone
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255
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The Task Force on Genetic Testing needs your help
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Neil A. Holtzman
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257
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