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Testimonials:

MSUD Parents




MSUD Patients





Presentations:

Developing Therapeutics for the Treatment of Orphan Diseases with Significant Unmet Medical Need (PDF)
Robert D. Steiner, MD, CMO -Acer Therapeutics





Gene replacement and genome editing in the treatment of liver metabolic diseases (PDF)
James M. Wilson, MD, PhD - Perelman School of Medicine, University of Pennsylvania





MSUD - A sense of Progress 1986-2016 Part I (PDF)
Dr. Holmes Morton MD - Pediatrician, Central Pennsylvania Clinic, Belleville, Pennsylvania





MSUD - A sense of Progress 1986-2016 Part II (PDF)
Dr. Holmes Morton MD - Pediatrician, Central Pennsylvania Clinic, Belleville, Pennsylvania





Phenylbutyrate Therapy for MSUD (PDF)
Brendan Lee, MD, PhD - Department of Molecular and Human Genetics Baylor College of Medicine





Metabolism, Infection and Immunity in Inborn Errors of Metabolism (PDF)
Peter J. McGuire MS, MD, National Human Genome Research Institute



Dietary Management on a Dime (PDF)
Julie McClure, MPH, RD - Metabolic Dietitian, UNC-CH



Enhancing Pediatricians Awareness of MSUD Infants Health in China (PDF)
Xinlin Hou, MD,PhD



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Updates To Nutrition Management Guidelines

The Nutrition Management Guideline for MSUD was first published in 2014. Since that time, there have been reports of new research and experiences that have prompted updates of the guideline.

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Sweet Odyssey

Artur Santos was born on January 18, 2002, the second son of Soraya and Idario Santos. They never imagined how their lives were about change as the second baby arrived.

Read More

Indigo Charlie Mays - Variant MSUD Age 4

Meet our girl Indigo Charlie Mays. After a smooth pregnancy and delivery, she was born on July 21st, 2013 in Seattle, WA.

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NBS-MSUD Connect: Advancing MSUD Research And More

NBSCONNECT.ORG

Rare disease registries have received attention in recent years because of the many ways in which they can benefit the rare disease community.

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MSUD Advocacy Update

Healthcare and issues facing the rare disease community have been at the forefront of national conversations over the past 6 months.

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Adjusting Protein In An Adult With MSUD

A little over a year ago, in January, Jeff was just not himself. He had limited energy, was not eating well, and often appeared slightly agitated.

Read More

Transform

A Child's Life

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