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Academic Journal

Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay.

Subjects: INBORN errors of metabolism diagnosis; DIAGNOSIS of child development deviations; HETEROCYCLIC compounds

  • Source: Pediatrics. Jun2024, Vol. 153 Issue 6, p1-7. 7p.

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Academic Journal

Implementation of Universal Screening for G6PD Deficiency in Newborns.

Subjects: MANDATORY medical testing; REFERENCE values; INBORN errors of metabolism

  • Source: Pediatrics. Aug2024, Vol. 154 Issue 2, p1-10. 10p.

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Academic Journal

Medical Foods for Inborn Errors of Metabolism: History, Current Status, and Critical Need.

Subjects: HEALTH insurance reimbursement laws; COMMITTEES; DIET therapyUNITED States

  • Source: Pediatrics. Mar2020, Vol. 145 Issue 3, p1-8. 8p.

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Academic Journal

Effectiveness of a Clinical Pathway for the Emergency Treatment of Patients With Inborn Errors of Metabolism.

Subjects: INBORN errors of metabolism; EMERGENCY medical services; MEDICAL quality control

  • Source: Pediatrics. Dec2008, Vol. 122 Issue 6, p1191-1195. 5p. 2 Charts, 2 Graphs.

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Academic Journal

Therapies for Inborn Errors of Metabolism: What Has the Orphan Drug Act Delivered?

Subjects: ORPHAN drug laws; INBORN errors of metabolism; THERAPEUTICSUNITED States

  • Source: Pediatrics. Jul2010, Vol. 126 Issue 1, p101-106. 6p.

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Periodical

Little-used newborn test can prevent real heartache.

Subjects: NEWBORN screening; MEDICAL screening; METABOLIC disorders in childrenUNITED States

  • Source: U.S. News & World Report. 01/17/2000, Vol. 128 Issue 2, p59. 2p. 1 Color Photograph.

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Academic Journal

Inborn Errors of Metabolism: The Clinical Diagnosis in Early Infancy.

Subjects: INBORN errors of metabolism diagnosis; GENETIC disorder diagnosis; INFANT disease diagnosis

  • Source: Pediatrics. Mar87, Vol. 79 Issue 3, p359. 11p.

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Academic Journal

Failure to Thrive: When to Suspect Inborn Errors of Metabolism.

Subjects: FAILURE to thrive syndrome; SYMPTOMS; JUVENILE diseases

  • Source: Pediatrics. Sep2009, Vol. 124 Issue 3, p972-979. 8p.

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Academic Journal

Following Patients With Inborn Errors of Metabolism: What Do We Value and How Do We Know?

Subjects: MEDICAL quality control; HEALTH policy; PEDIATRICS

  • Source: Pediatrics. Aug2021, Vol. 148 Issue 2, p1-2. 2p.

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Academic Journal

Population Pharmacokinetics and Pharmacodynamics of Burosumab in Adult and Pediatric Patients With X‐linked Hypophosphatemia.

Subjects: BIOLOGICAL models; DRUG efficacy; X-linked genetic disorders

  • Source: Journal of Clinical Pharmacology. Jan2022, Vol. 62 Issue 1, p87-98. 12p.

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  • 1-10 of  207 results for ""INBORN errors of metabolism""