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Henry, MMA, Cobalamin C, Age 2

Our Kids  / Henry, MMA, Cobalamin C, Age 2 Henry was born in 2020 in Missouri. I had a normal pregnancy and delivery. He was born at 39 weeks, but only weighed 5lbs 13oz. This was my first clue that

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Mason, Cobalamin C Deficiency, Age 7

Our Kids  / Mason Cobalamin C Deficiency, Age 7 In the fall of 2014, we were living the “classic” American dream.  We had a 2-year-old daughter, a yellow Labrador and were about to have our son.  Mason was born December

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Taryn

Our Kids  / Taryn MMA Cbl A, Age 22 Hi my name is Taryn and on January 30, 2000, I was born at 3:15pm at Jefferson Hospital in Philadelphia, Pennsylvania and weighed 7 pounds 1 ounce. When I was born,

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Allison and Marcel

Our Kids  / Allison and Marcel Propionic Acidemia Allison is 14 years old and Marcel is 18 months old, both were diagnosed with Propionic Acidemia through newborn screening. Allison was hospitalized for a few days right after her diagnosis was

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Fishing for New Drugs for Propionic Acidemia

Fishing for New Drugs for Propionic Acidemia BY: VIRGINIA GINOCCHIONICOLA BRUNETTI-PIERRI, MD, FACMGASSOCIATE INVESTIGATORTELETHON INSTITUTE OF GENETICSAND MEDICINE VIA CAMPI FLEGREI 3480078 POZZUOLI (NAPOLI), ITALYASSOCIATE PROFESSORDEPARTMENT OF TRANSLATIONAL MEDICINEFEDERICO II UNIVERSITY OF NAPLES In the last decades careful clinical and

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