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Newborn Screening Articles Winter[removed]_Clin_Chim_Acta._ 2012 Feb 18;[removed]):[removed]Epub 2011 Oct 29. The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspot
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Document Date: 2012-07-24 10:18:35


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Santos / San Francisco / Bloodspot / Wolfsdorf / Salt Lake City / Tunis / /

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Jungner / Wilson / Eaton / Brown / HbO / GM / Kao / /

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necrotizing enterocolitis / hydrocephalus / congenital adrenal hyperplasia / JE / seizures / X-linked genetic disorder / multiplex screening test-Pompe disease / infectious complications / nasal polyps / disorder / lymphopenia / phenylketonuria / otitis media / false negative cystic fibrosis / Asthma / Hawai'i pediatrician hemoglobinopathy / hereditary / CHD / metabolic diseases / agammaglobulinemia / hypothyroidism / sickle cell hemoglobinopathy / Hemoglobinopathy / chronic / co-occurring birth defects / Allergy / neurocutaneous disorder / Fabry disease / diseases / baseline pediatrician hemoglobinopathy knowledge / Lysosomal storage diseases / PKU / _California_Cystic_Fibrosis / infection / inborn errors of metabolism / deficiency / _J_Allergy / X-linked adrenoleukodystrophy / metabolic disorder / disorders / Pseudomonas / Transcobalamin (TC) deficiency / Krabbe disease / severe combined immunodeficiencies / inherited hemoglobinopathies / recurrent pancreatitis / Abstract X-linked adrenoleukodystrophy / peroxisomal disorders / _J_Cyst / phagocytic disorders / infectious / critical congenital heart disease / sensorineural hearing loss / hearing disorders / severe disorder / sinusitis / phenylketonuria / congenital hypothyroidism / cystic fibrosis / MS / hearing loss / infections / hearing impairment / Pompe disease / sepsis / hemoglobinopathies / hemoglobinopathy clinic / congenital heart defects / severe genetic disorder / severe combined immunodeficiency / disease / congenital hypothyroidism / hormone deficiency / hemoglobinopathy education materials / growth hormone deficiency / related disorders / anemias / nosocomial infection / hemoglobinopathy educational session / sickle cell disease / typical SCID / SCID / severe T-cell lymphopenia / sickle cell trait / protracted disease / Biotinidase deficiency / metabolic disease / Cyst / several disorders / chorioamnionitis / mild lung disease / syndrome / /

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NHS / United Nations / American Academy of Pediatrics / /

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Adamski / Redman / /

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Secretary of Health / Prime Minister / Secretary / EXECUTIVE / Major / genetic counselor / Hb / counsel / pediatrician / baseline pediatrician / /

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