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    Children's Health

    Medical Reference Related to Children's Health

    1. Andersen Disease (GSD IV)

      Important It is possible that the main title of the report Andersen Disease (GSD IV) is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...

    2. Batten Disease

      Important It is possible that the main title of the report Batten Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...

    3. Phenylketonuria

      Phenylketonuria (PKU) is an inborn error of metabolism that is detectable during the first days of life with appropriate blood testing (e.g.,during routine neonatal screening). PKU is characterized by absence or deficiency of an enzyme (phenylalanine hydroxylase) that is responsible for processing the essential amino acid phenylalanine. (Amino acids,the chemical building blocks of proteins,...

    4. Ruvalcaba Syndrome

      Important It is possible that the main title of the report Ruvalcaba Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...

    5. Chromosome 22 Ring

      Important It is possible that the main title of the report Chromosome 22 Ring is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...

    6. Kufs Disease

      Important It is possible that the main title of the report Kufs Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...

    7. Erythrokeratodermia with Ataxia

      Important It is possible that the main title of the report Erythrokeratodermia with Ataxia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...

    8. Schwartz Jampel Syndrome

      Important It is possible that the main title of the report Schwartz Jampel Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...

    9. Setleis Syndrome

      Important It is possible that the main title of the report Setleis Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...

    10. Bloom Syndrome

      Important It is possible that the main title of the report Bloom Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...

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