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Medical genetics / Hyperammonemia / Glutaric aciduria type 1 / Isovaleric acidemia / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Methylmalonic acidemia / Propionic acidemia / Fatty-acid metabolism disorder / Carnitine-acylcarnitine translocase deficiency / Health / Rare diseases / Genetic genealogy


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Document Date: 2014-09-16 08:12:01


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BRAIN INJURY / /

MedicalCondition

MICROCEPHALY / direct complications PECTUS CARINATUM/PECTUS EXCAVATUM / malignant potential OCULAR ALBINISM / ulcerative colitis INTERSEX DISORDERS / Trifunctional protein deficiency / MUCOPOLYSACCHARIDOSIS / Glycogen Storage Disease Hereditary Fructose Intolerance Organic Acid Disorders / medical treatment THROMBOCYTOPENIA / DIABETES INSIPIDUS / CYSTIC HYGROMA INFLAMMATORY BOWEL DISEASE / chronic NEUROFIBROMATOSIS NEUROMUSCULAR DISORDERS / ASA synthetase deficiency / ADENOID HYPERTROPHY causing SLEEP APNEA ENUCLEATION / congenital OSTEOCHONDRITIS / surgery HYPERCHOLESTEROLEMIA / surgery METABOLIC DISORDERS/INBORN ERRORS OF METABOLISM Amino Acid Disorders / gastroschisis / CoA hydratase deficiency / congenital ASTHMA / surgery SEIZURE DISORDERS / retinopathy of prematurity / CORNEAL TRANSPLANTS ICHTHYOSIFORM ERYTHRODERMA / severe surgery GLAUCOMA / GUILLAIN-BARRE DISEASE / LARYNGEAL PAPILLOMA LEUKEMIA LEUKODYSTROPHY MALOCCLUSION / injury / Tyrosinemia / surgery EAR DEFORMITY EHLERS-DANLOS DISEASE ENCEPHALITIS / ERB's PALSY / acetoacetyl-CoA thiolase deficiency / ATAXIAS / Phenylketonuria / II therapy DIAPHRAGMATIC HERNIA DISLOCATION OF HIPS OR OTHER JOINTS KYPHOSIS / cystathione synthase deficiency / CHRONIC NEPHRITIS NERVE INJURIES / congenital DENTAL DISORDERS / transporter deficiency / last CEREBRAL PALSY / Glutaric acidemia/aciduria Glutathione synthetase deficiency / NEPHROSIS / muscular dystrophy NEVI / MASTOIDITIS / Homocystinuria / HEMOGLOBINOPATHIES / ornithine oxo-acid aminotransferase deficiency Maple syrup urine disease / congenital BONE CYST / OSTEOCHONDROMAS / acyl-CoA dehydrogenase deficiency / Biotinidase Deficiency Fatty Acid Oxidation Disorders / PARAPLEGIA / CoA dehydrogenase deficiency / TUMORS / Disease / eosinophilic granuloma / POST-TRAUMATIC DEFORMITY / bones OSTEOGENESIS IMPERFECTA OSTEOMYELITIS / hyperlipidemia CATARACTS HYPERTHYROIDISM CELIAC DISEASE HYPOPARATHYROIDISM / Hallervorden-Spatz Disease / PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION / TFP Deficiency / hyperglycinemia Ornithine aminotransferase deficiency Ornithine transcarbamylase deficiency / deformities problems requiring surgery HISTIOCYTOSIS X / ACQUIRED BRAIN INJURY / physical DIABETES MELLITUS / IMPERFORATE ANUS EYELID DEFORMITY / congenital ANEMIAS / radiation Sickle cell anemia BRANCHIOGENIC CLEFT CYST / Multiple CoA carboxylase deficiency Refsum’s Disease / surgery PERTHES DISEASE POLYCYSTIC KIDNEY DISEASE PRECOCIOUS PUBERTY PSEUDOHYPOPARATHYROIDISM PTOSIS / considerable psychological HEMOPHILIA / minor anemias / residuals HYDROCEPHALUS / surgery GROWTH HORMONE DEFICIENCY BONE TUMORS / Carnitine/acylcarnitine translocase deficiency / MENINGOCELE / congenital DERMATOMYOSITIS JOINT DEFORMITY / HHH syndrome / severe soft tissue deformity / rehabilitative ESOPHAGEAL VARICES / dehydrogenase deficiency / PKU / acute HEMANGIOMA / severe BIRTH INJURY / familial CANCER / severe SYNDACTYLY SYNDROMES / residuals BONY DEFORMITIES / deficiency / ASA lyase deficiency / chronic MEGACOLON / CoA carboxylase deficiency / DEFICIENCY STATE TORTICOLLIS / POLIOMYELITIS OR MENINGITIS / surgery HEARING LOSS / premature synostosis / sickle cell APLASIA CUTIS CONGENITA / RHEUMATOID ARTHRITIS SCLERODERMA SCOLIOSIS / MYELOCELE STRABISMUS / Carbamoyl phosphate synthetase deficiency Citrullinemia / severe combined CYSTIC FIBROSIS immunodeficiency / /

MedicalTreatment

surgery / radiation / CORNEAL TRANSPLANTS / /

Organization

MADD / Medical Advisory Council / /

Person

ARNOLD-CHIARI DEFORMITY ARTHROGRYPOSIS GASTROINTESTINAL TRACT / /

Position

controller / /

Technology

ALPHA / radiation / /

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