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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: 2012-08-28 15:52:15


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BRAIN INJURY ENUCLEATION / /

MedicalCondition

Crohn’s CYSTIC HYGROMA Disease / MICROCEPHALY / direct complications PECTUS CARINATUM/PECTUS EXCAVATUM / CYSTIC FIBROSIS INFLAMMATORY BOWEL DISEASE / NEUROMUSCULAR DISORDERS / malignant potential OCULAR ALBINISM / considerable psychological HISTIOCYTOSIS X / muscular dystrophy NEPHROSIS / CELIAC DISEASE / Trifunctional protein deficiency / MUCOPOLYSACCHARIDOSIS / Glycogen Storage Disease Hereditary Fructose Intolerance Organic Acid Disorders / medical treatment THROMBOCYTOPENIA / ACQUIRED BRAIN INJURY ENUCLEATION / familial combined hyperlipidemia CANCER / years CEREBRAL PALSY / ASA synthetase deficiency / residuals HYPERCHOLESTEROLEMIA / congenital OSTEOCHONDRITIS / JOINT DEFORMITY / surgery METABOLIC DISORDERS/INBORN ERRORS OF METABOLISM Amino Acid Disorders / gastroschisis / chronic NEUROFIBROMATOSIS NEVI / CoA hydratase deficiency / surgery SEIZURE DISORDERS / retinopathy of prematurity / GUILLAIN-BARRE DISEASE / congenital THYROGLOSSAL DUCT CYST T-LYMPHOCYTE IMMUNE DEFICIENCY STATE TORTICOLLIS / severe GLAUCOMA / injury / Tyrosinemia / II DIAPHRAGMATIC HERNIA DISLOCATION OF HIPS OR OTHER JOINTS EAR DEFORMITY EHLERS-DANLOS DISEASE ENCEPHALITIS / problems requiring surgery HYDROCEPHALUS / severe Sickle cell anemia BRAIN TUMORS / ERB's PALSY / infusion OSTEOCHONDROMAS pump BONY DEFORMITIES / acetoacetyl-CoA thiolase deficiency / EYELID DEFORMITY / residuals BONE CYST / ATAXIAS / Phenylketonuria / SUBMUCOUS CLEFT CONGENITAL ADRENAL HYPERPLASIA / cystathione synthase deficiency / CHRONIC NEPHRITIS NERVE INJURIES / transporter deficiency / Glutaric acidemia/aciduria Glutathione synthetase deficiency / ASTHMA / MASTOIDITIS / Homocystinuria / HEMOGLOBINOPATHIES / surgery BONE TUMORS / acyl-CoA dehydrogenase deficiency / Biotinidase Deficiency Fatty Acid Oxidation Disorders / surgery LARYNGEAL PAPILLOMA LEUKEMIA LEUKODYSTROPHY MALOCCLUSION / PARAPLEGIA / severe KYPHOSIS / CoA dehydrogenase deficiency / eosinophilic granuloma / POST-TRAUMATIC DEFORMITY / bones OSTEOGENESIS IMPERFECTA OSTEOMYELITIS / HALLERVORDEN-SPATZ DISEASE / surgery HEMOPHILIA / FAMILIAL DEGENERATIVE DISEASE / TFP Deficiency / hyperglycinemia Ornithine aminotransferase deficiency Ornithine transcarbamylase deficiency / congenital ARTHROGRYPOSIS / IMPERFORATE ANUS ANEMIAS / ICHTHYOSIFORM ERYTHRODERMA / Multiple CoA carboxylase deficiency Refsum’s Disease / HYPOPHOSPHATEMIC RICKETS / congenital DIABETES INSIPIDUS DIABETES MELLITUS / surgery PERTHES DISEASE POLYCYSTIC KIDNEY DISEASE PRECOCIOUS PUBERTY PSEUDOHYPOPARATHYROIDISM PTOSIS / minor anemias / Carnitine/acylcarnitine translocase deficiency / MENINGOCELE / HHH syndrome / CANCER OF EYE HYPERTHYROIDISM CATARACTS HYPOPARATHYROIDISM / severe soft tissue deformity / ornithine oxo-acid aminotransferase deficiency Maple syrup urine disease N-Acetylglutamate / DENTAL DISORDERS / SCID / TRACHEAL STENOSIS TRACHEOESOPHAGEAL FISTULA TUBERCULOSIS OF BONES AND JOINTS TUBEROUS SCLEROSIS UNDESCENDED TESTES WEGENER / acute HEMANGIOMA / deficiency / severe SYNDACTYLY SYNDROMES / ASA lyase deficiency / radiation Thalassemia BRANCHIOGENIC CLEFT CYST / chronic MEGACOLON / Isobutyryl-CoA dehydrogenase deficiency / CoA carboxylase deficiency / POLIOMYELITIS OR MENINGITIS / surgery HEARING LOSS / premature synostosis / congenital BILE DUCT ATRESIA GROWTH HORMONE DEFICIENCY BIRTH INJURY / RHEUMATOID ARTHRITIS SCLERODERMA SCOLIOSIS / MYELOCELE STRABISMUS / Carbamoyl phosphate synthetase deficiency Citrullinemia / /

MedicalTreatment

surgery / physical therapy / radiation / CORNEAL TRANSPLANTS / /

Organization

MADD / Medical Advisory Council / /

Person

ARNOLD-CHIARI DEFORMITY GASTROINTESTINAL TRACT ANOMALIES / /

Position

controller / /

Technology

ALPHA / radiation / /

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