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IEM Drugs

Books

Protocol for Lysosomal Diseases Patients Started on Enzyme Replacement Therapy (ERP)

Protocol for Pompe Disease Patients Started on Myozyme® (Alglucosidase Alfa)  Protocol for Immune...

Nutrition Protocol for Management of Inborn Errors of Metabolism (IEM)

Preface  Chapter 1 Nutritional Support for Urea Cycle Disorders Chapter 2 Nutritional Support for P...

Manual of Establishing a Newborn Screen Program Diagnosis and Management of Screened Disorders.

Preface Inborn Errors of Metabolism Chapter 1: Newborn Screening Programs (NBS) in Saudi Arabia C...

IEM Drugs

Ddx

Xanthomas

1. Cerebrotendinous xanthomatosis

Vomiting and Erroneous Diagnosis of Pyloric Stenosis

 1. Ethylmalonic-adipic aciduria...

Subdural effusions

1. Glutaric aciduria I

Stroke-like Episodes

1. Carbamyl phosphate synthetase deficiency

Spastic Paraparesis

1. Argininemia

Sensorineural Deafness

1. Biotinidase deficiency

IEM Drugs

Guidelines

ACUTE MANAGEMENT OF PROPIONIC ACIDEMIA (PA)

ACUTE MANAGEMENT OF PRIMARY HYPERAMMONEMIA

ACUTE MANAGEMENT OF METHYLMALONIC ACIDEMIA (MMA)

ACUTE MANAGEMENT OF ARGININOSUCCINATE LYASE DEFICIENCY (ARGININOSUCCINIC ACIDURIA) AND ARGININOSUCCINATE SYNTHETASE DEFICIENCY (CITRULLINEMIA)

ACUTE MANAGEMENT MAPLE SYRUP URINE DISEASE

ACUTE MANAGEMENT OF UREA CYCLE DISEASES

IEM Drugs

Drugs

Zinc

XENPOZYME (olipudase alfa-rpcp)

VOXZOGO (vosoritide)

Vitamin E

Vitamin C

Velaglucerase alfa

IEM Drugs

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