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Metabolic Disorders
National Library of Medicine — Dubin-Johnson syndrome Donnai-Barrow syndrome hereditary folate malabsorption carnitine palmitoyltransferase 2 deficiencyMore…
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Hereditary Metabolic Disorders
Merck — Most of the foods and drinks people ingest are complex materials that the body must break down into simpler substances. This process may involve several steps. The simpler substances are then used as building blocks, which are assembled into the ...More…
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Glossary - UMDF
HOPEResearch Grant ProgramENERGYAdvocacyAdvocacy Actions State by StateAwarenessChapters & GroupsEvents & ActivitiesFundraisingMember BenefitsVolunteerFor AdultsFor Kids and TeensMitochondrial Medicine 2009LIFEAbout Mitochondrial DiseaseDisease .. ...More…
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El metabolismo
Kids Health — Nuestros cuerpos obtienen la energía que necesitan de los alimentos a través del metabolismo, un conjunto de reacciones químicas que tienen lugar en las células del cuerpo que permite transformar la energía que contienen los alimentos en el ...More…
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Methylmalonic Acid: The Test
Lab Tests Online — Explains how the methylmalonic acid (MMA) test is used, when a methylmalonic acid (MMA) test is done, and what the results of a methylmalonic acid (MMA) test might mean MMA is primarily ordered, sometimes along with homocysteine, to help diagnose ...More…
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METABOLIC MYOPATHIES
College of Rheumatology — Metabolic myopathies are genetic diseases, usually inherited, that affect the body's muscles. [Metabolism refers to chemical reactions that provide energy and nutrients, or substances necessary for health and growth.] Some people with a metabolic ...More…
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"Mucopolysaccharidoses"
Clinical Trials — Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I Mucopolysaccharidosis I; Lysosomal Storage Diseases; Spinal Cord Compression A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS ...More…
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"Mucolipidoses"
Clinical Trials — Open Studies / "Mucolipidoses" Adrenoleukodystrophy; Metachromatic Leukodystrophy; Globoid Cell Leukodystrophy; Tay Sachs Disease; Sandhoffs Disease; I-Cell Disease; Sanfillipo; GM1 Gangliosidosis Drug: Campath; Drug: Clofarabine; Procedure: ...More…
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"Metabolic Diseases"
Clinical Trials — Effects of Intravenous Injection of Erythropoietin on Hepcidin Pharmacokinetics in Healthy Volunteers Observational Study of Early Metabolic and Vascular Changes in Obesity Obesity; Atherosclerosis; Early Phases of Steatosis Hepatis; Insulin ...More…
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Benefits of Comprehensive Newborn Screening
Save Babies Through Screening — Through the generosity of PerkinElmer Genetics, Inc., and funding provided by the Save Babies Through Screening Foundation, a You should apply early in the third trimester (7th month of your pregnancy)--or sooner--so that you will have Also, ...More…
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Caenorhabditis elegans
NINDS Espanol — Las mucolipidosis son un grupo de enfermedades metabólicas heredadas que afectan la capacidad del cuerpo de llevar a cabo el movimiento normal de diversos materiales dentro de células. En las mucolipidosis, cantidades anormales de hidratos de ...More…
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CUESTIONES ESPECIALES
Muscular Dystrophy Association — Si está leyendo este panfleto, probablemente es porque acaba de recibir un diagnóstico desconcertante: miopatía mitocóndrica (MM). ¿Qué es la MM y qué significa? Estas son preguntas que mi esposo Jeff y yo enfrentamos cuando nuestra hija bebé, ...More…