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Clear ×Read all41 of 117 · Tag: Newborn screening
- May 7, 2026Glutaric acidemia I and the striatum
- May 7, 2026The C5-OH cluster
- May 7, 2026Isovaleric acidemia, the genotype-phenotype question
- May 7, 2026The fatty acid oxidation family
- May 7, 2026Carnitine uptake defect
- May 7, 2026LCHAD deficiency
- May 7, 2026Trifunctional protein deficiency
- May 7, 2026VLCADD, the three phenotypes
- May 7, 2026Hearing loss, the other newborn screen
- May 7, 2026Propionic acidemia, the cardiomyopathy the screen cannot prevent
- May 7, 2026Methylmalonic acidemia, mutase deficiency
- May 7, 2026Methylmalonic acidemia, cobalamin disorders
- May 7, 2026Argininosuccinic aciduria
- May 7, 2026Citrullinemia type I
- May 7, 2026Hurler syndrome, the bone marrow transplant pioneer
- May 7, 2026Hunter syndrome, the blood-brain barrier problem
- May 7, 2026GAMT, the third OTC supplement treatment
- May 7, 2026Hemoglobin SC, the quieter sickle variant
- May 7, 2026Sickle beta-thalassemia, the third form
- May 7, 2026CCHD, the screen without a blood spot
- May 7, 2026Duchenne, the other disorder waiting for the panel
- May 7, 2026CAH, the endocrine emergency the screen prevents
- May 7, 2026Tyrosinemia type I, the drug that rewrote the prognosis
- May 7, 2026Homocystinuria, the vitamin-responsive amino acid disorder
- May 7, 2026Krabbe disease and the screen that runs out of time
- May 7, 2026X-ALD, from Lorenzo's oil to gene therapy
- May 7, 2026Biotinidase deficiency, the vitamin that prevents deafness
- May 7, 2026Cystic fibrosis, the poster child grows up
- May 7, 2026Metachromatic leukodystrophy, the four million dollar treatment that needs screening
- May 7, 2026PKU in the developing world
- May 7, 2026The Screening Success Nobody Talks About
- May 7, 2026When Perfect Compliance Is Not Enough
- May 7, 2026The Babies Whose Deaths Were Blamed on Their Parents
- May 7, 2026The Mennonite Clinic
- May 7, 2026The Mothers Who Built Newborn Screening
- May 7, 2026Bubble Boy to Population Screening in One Generation
- May 7, 2026Race, Screening, and the $2 Million Cure
- May 7, 2026The Father Who Became a Biotech CEO
- May 7, 2026The Most Expensive Drug and the Argument for Speed
- Apr 28, 2026PKU formula, a logistics primer
- Apr 28, 2026What is newborn screening, in plain words