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Genetics study guides
Study guides for medical students, residents, nurses and pediatricians: each opens with Pedemy's decision tree, then the key facts from the board-review flashcards.
Amino acid disorders: PKU, MSUD, tyrosinemia and homocystinuria
Amino acid disorders for board review: PKU diagnosis, diet and Phe targets, maternal PKU, MSUD, tyrosinemia type 1 and homocystinuria.
Study guide · Metabolic DisordersChromosome and imprinting disorders
Chromosome and imprinting disorders for boards: trisomies, Down syndrome care, Turner, 22q11.2, Williams, Prader-Willi, Angelman, fragile X and test choice.
Study guide · GeneticsCraniofacial and developmental patterns
Craniofacial and birth-defect patterns for boards: Robin sequence, craniosynostosis syndromes, Treacher Collins, Goldenhar, amniotic bands, VACTERL, CHARGE.
Study guide · GeneticsGalactosemia, fructose intolerance and glycogen storage diseases
Galactosemia, galactokinase deficiency, hereditary fructose intolerance, GSD I (von Gierke), Pompe and McArdle disease: clues, tests and treatment.
Study guide · Metabolic DisordersGrowth and overgrowth syndromes
Overgrowth and growth restriction syndromes for boards: Beckwith-Wiedemann, Sotos, Proteus, Klippel-Trenaunay, Silver-Russell, Cornelia de Lange, Donohue.
Study guide · GeneticsImmune and DNA repair disorders
Recurrent infections plus a syndrome clue: 22q11.2 deletion, Wiskott-Aldrich, ataxia-telangiectasia and Bloom syndrome, for board review.
Study guide · GeneticsInheritance patterns
Inheritance patterns for boards: reading a pedigree, autosomal dominant and recessive, X-linked recessive and dominant risks, and sickle cell math.
Study guide · GeneticsInherited kidney disorders
Inherited kidney disorders for boards: ADPKD, ARPKD, nephronophthisis, Alport spectrum, nail-patella syndrome and WT1 disorders, with follow-up.
Study guide · GeneticsFamilial hypercholesterolemia, Menkes, X-ALD and Smith–Lemli–Opitz
Familial hypercholesterolemia in children, Menkes disease, X-linked adrenoleukodystrophy and Smith–Lemli–Opitz syndrome: clues, tests and treatment.
Study guide · Metabolic DisordersLysosomal lipid storage disorders: Gaucher, Tay–Sachs, Niemann–Pick C, Fabry
Lysosomal lipid storage disorders for board review: Gaucher types and treatment, Tay–Sachs, Niemann–Pick type C and Fabry disease clues and tests.
Study guide · Metabolic DisordersMCAD deficiency and mitochondrial disorders
MCAD deficiency (hypoketotic hypoglycemia, C8, newborn screen, sick-day plan) and mitochondrial disease: inheritance, CPEO, MELAS and Kearns–Sayre.
Study guide · Metabolic DisordersMucopolysaccharidoses: Hurler, Hunter and Sanfilippo
Mucopolysaccharidoses for board review: Hurler (MPS I), Hunter (MPS II) and Sanfilippo (MPS III) enzymes, corneas, X-rays, complications and treatment.
Study guide · Metabolic DisordersMultisystem genetic syndromes
Multisystem syndromes for board review: 22q11.2 deletion, Noonan, Alagille, CHARGE, Waardenburg, BOR, Fanconi anemia, HHT, Bardet–Biedl and Alström.
Study guide · GeneticsNeurocutaneous and tumor predisposition syndromes
Neurocutaneous and cancer predisposition syndromes for board review: NF1 criteria and follow-up, TSC, Sturge-Weber, incontinentia pigmenti, VHL, NF2, LFS, WAGR.
Study guide · GeneticsUrea cycle disorders and Lesch-Nyhan disease
Urea cycle disorders and Lesch-Nyhan for board review: neonatal hyperammonemia, OTC vs CPS1, orotic acid, emergency treatment and HPRT deficiency.
Study guide · Metabolic DisordersOrganic acidemias and biotin disorders
Organic acidemias for board review: first labs, urine organic acids, crisis care, propionic and isovaleric acidemia, GA1 and biotin-responsive disorders.
Study guide · Metabolic DisordersSkeletal and connective tissue disorders
Skeletal and connective tissue disorders for board review: achondroplasia, OI types, Marfan revised Ghent criteria and systemic score, EDS and Loeys-Dietz.
Study guide · Genetics