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City Oxford / Mumbai / Geneva / / Company VITAMINS & CO / JTR Clarke 1996 Cambridge University Press / Small Molecular Diseases Group 1 Group 2 Group / McGraw-Hill / Wilson / Diseases Group 1 Group 2 Group 3 Group / Merzbacher 2 2 1 1 1 6 Group / / Country India / / / Event Product Issues / / Facility KEM Hospital / Genetic clinic PRL / / IndustryTerm deficient product / gas chromatography mass spectroscopy / energy deficiency / / MedicalCondition myoclonic jerks / severe metabolic and lactic acidosis / genetically inherited disorders / acidosis / Lysosomal Storage Disorders / individual disorders / urea cycle disorders / seizures / similar illness / sickle cell anemia / coma / Mucolipidoses / platelet dysfunction / Hunter’s disease / amino acid disorder / neurological dysfunction / galactosemia / primary lactase / cirrhosis / Citrullinemia / Goodpasture syndrome / OTC deficiency / Simple molecular disease / galactosemia / Fabry’s disease / difficult disorders / drowsiness / disorder / white matter disease / complex molecular diseases / thalassemia / hepatitis / Phenylketonuria / illness / usually recessive disorders / liver disease / hypoglycemia / sunflower cataract / post-hepatic cirrhosis / respiratory chain disorder / Homocystinuria / chronic cour Neonatal Hyperammonemia Symptoms / early morning fasting hypoglycemia / aminoacid disorders / MELAS / mental retardation / Cardiomyopathy / genetic disease / lysosomal disorders / ornithine transcarbamylase deficiency / metabolic acidosis / simple molecular diseases / argininemia / adrenogenital syndrome / recurrent vomiting / Chronic / neutropenia / glycogenosis / aminoacid disorder / neurological manifestations / Fever / lethargy / Hereditary Metabolic Diseases / vomiting / drooling / variant moderate lactic acidosis / Inherited Disease / increased anion gap Neutropenia / Miscellaneous Diseases / Gaucher’s disease / isomaltase deficiency / lysosomal storage diseases / vitamin deficiency osteopenia / infection / hypotonia / dystonia / xanthomas / certain aminoacid disorder / Inborn errors of metabolism / Deficiency / metabolic disorder / rash / intermittent ataxia / debrancher enzyme deficiency / antitrypsin deficiency / disorders / Down syndrome / Wolmans disease / Inherited Metabolic Diseases / Fanconi syndrome / comatose / renal Fanconi syndrome / X-linked disorder / coarse limb tremors / fatty acid oxidation disorders / Cardiac Failure / peroxisomal disorders / D-penicillamine Chronic Encephalopathy / thrombocytopenia / Ox-phos Disorders / hyperlysinemia / alopecia / juvenile cirrhosis / sulfite oxidase deficiency / hyperlipidemia ketoacidosis / fulminant hepatitis / renal tubular dysfunction / SO deficiency Galactosemia / Tyrosinemia / AR disorder / profound hypoglycemia / lactic acidosis Though ETC / moderate citrullinemia / With Ketosis MSUD / autosomal recessive disorder / infections / Porphyria / extreme hyperlipidemia / sepsis / phosphates deficiency / Mucopolysaccharidoses / proteinuria / Chronic Neurometabolic Disorder / hemolytic anemia / Fucosidosis Mannosidosis Canavan disease Farber disease Fabry’s disease Wolman disease Neuronal ceroid lipofuscinosis / Pyruvate dehydrogenase deficiency / disease / communicable diseases / cataracts / scholastic deterioration/dementia / biotinidase deficiencies / GM2 Gangliosidosis Metachromatic LD Niemann Pick disease Krabbe disease Gaucher disease GM1 Gangliosidosis Mucosulfatidosis / hematuria / chronic liver disease / cryptogenic cirrhosis / hereditary fructose intolerance / infantile Refsum disease / subacute viral hepatitis / Intercurrent infections / tyrosinemia Metabolic Acidosis Ketosis Lactic Acidosis Hyperammonemia Liver Dysfunction / congenital hypothyroidism / Niemann-Pick disease / Menkes disease / Secondary carnitine deficiency / B ketothiolase deficiency Biotinidase deficiency / Primary Lactic Acidosis / fulminant hepatic failure / MSUD Tyrosinemia Hartnup disease Histidinemia Cystinosis / molybdenum co-factor deficiency / ketosis / lactic acidosis / others seizures / Small-molecule Disease Vs Complex Molecular Disease / neurological manifestation / bile acid disorder / chronic active hepatitis / truncal and peripheral hypotonia / end stage hepatic disease / Homocystinuria Phenylketonuria Cystinuria / hyperammonemia and resistant life-threatening metabolic acidosis / psychiatric dysfunction / lethargy hypotonia / mucolipidosis / Maple syrup urine disease / leucopenia / immune-complex nephritis / Nonketotic hyperglycinemia / gray matter disease / MANAGEMENT OF INBORN ERRORS OF METABOLISM / cataract / Glutaric aciduria type II / respiratory chain disorders / genetic disorders / / MedicalTreatment Dialysis / Liver transplant / counseling / / MusicGroup Yes / Energy / / Organization Cambridge University / Mumbai GSD / World Health Organization / KEM Hospital Mumbai / Department of Pediatrics / Indian Perspective N.B. Kumta Department of Pediatrics / United Nations / KEM Hospital / / Person Edwin H Kolodny / N.B. Kumta / Gilles Lyon / Raymond D Adams Edwin / ASA CITRULLINE MIA / / Position General / Hunter / / Product dextrose / metronidazole / glycine / zinc sulfate / folic acid / product / / ProvinceOrState Maharashtra / / Technology spectroscopy / PDH / gas chromatography / Dialysis / alpha / ASL / / URL http / SocialTag 
Symposium on Fest - Schrift for Late Dr. P.M. Udani Inborn Errors of Metabolism (IEM) – An Indian Perspective N.B. Kumta Department of Pediatrics, KEM Hospital, Mumbai, Maharashtra, India.