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Academic Journal

Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations.

Subjects: Heterozygote* ; Liver Transplantation*; ATP Binding Cassette Transporter, Subfamily B, Member 11/ATP Binding Cassette Transporter, Subfamily B, Member 11/ATP Binding Cassette Transporter, Subfamily B, Member 11/*genetics

  • Source: Pediatrics [Pediatrics] 2019 May; Vol. 143 (5).Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print

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Academic Journal

The enzymatic expression of heterozygosity in families of children with galactosemia.

Subjects: Galactosemias* ; Heterozygote*; Enzymes/Enzymes/Enzymes/*blood

  • Source: Pediatrics [Pediatrics] 1960 Apr; Vol. 25, pp. 572-81.Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print

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Academic Journal

Prevalence and parental origin in Tetralogy of Fallot associated with chromosome 22q11 microdeletion.

  • Authors : Lu JH; Department of Pediatrics, Veterans General Hospital-Taipei, National Yang-Ming University, Taipei, Taiwan, Republic of China.; Chung MY

Subjects: Abnormalities, Multiple* ; Chromosomes, Human, Pair 22* ; Gene Deletion*

  • Source: Pediatrics [Pediatrics] 1999 Jul; Vol. 104 (1 Pt 1), pp. 87-90.Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print

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Academic Journal

Kernicterus on the Spectrum.

  • Source: NeoReviews; Jun2023, Vol. 24 Issue 6, pe329-e342, 14p

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