04.26.2004

METABOLIC DISEASES

• Hyperammonemia-fact sheet
• Hypophosphatasia-Fact Sheet
• Triose Phosphanate Isomerase Deficiency-Home Page
• Ornithine Transcarbamylase Deficiency - Gene Therapy
• Human Ornithine Transcarbamylase (OTCase) website - Minnesota
• Type I Primary Hyperoxaluria-Images in Clinical Medicine 1999

General Aspects

• Acid-Base Disordes - Family Practice Handbook
• Inborn Errors of Metabolism-text
• AssayFinder Metabolic Disease-find laboratories
• Cardiology-Dyslipidemias - Handbook online
• Gen.Metabolic Disease E-Mail List
• Inborn-Errors MailBase
• Inherited Metabolic Diseases-fact sheet
• List of Biochemical Genetics Tests by Diseases
• Glycosaminoglycans and Proteoglycans-Medical Biochemistry Page
• Glycogen Metabolism-The Medical Biochemistry Page
• Lipid Metabolism-Medical Biochemistry Page
• Cholesterol and Bile Metabolism-Medical Biochemistry Page
• Metabolic Genetics Clinics-Univ.Pensylvania
• Electrolyte, and Metabolic Disorders - Handbook online
• Hypocalcemia - Brooke Army Medical Center
• Hypercalcemia - Brooke Army Medical Center
• Snap - Metabolic & Storage Diseases
• METABOLIC AND DEFICIENCY DISORDERS OF THE CNS-Hystopathology
• Biochemical Genetics and Metabolism Laboratory - Univ.Minnesota
• Metabolism-эволюционный аспект
• Neonatal Metabolic Disorders-Virtual Hospital
• UCSD Boochemical Genetics Tests List
• UCSD Biochemical Genetics
• Inborn Errors of Metabolism-Society
• PUMA graphics-Metabolism
• Standards for metabolic research
• World-Wide Web Biochemical Genetics Test Listst
• The THCME Medical Biochemistry Page

Database of Metabolic Disesases

• Fatty Acid Oxidation Disorders-Network Online
• Metabolic Genetics Clinics-Univ.Pensylvania
• Metachromatic Leukodystrophy (MLD)-Duke University Medical Center
• Mucopolysaccharidosis dis.-Mutation Database-(Minnesota)
• HealthAtoZ Search Engine - Genetic & Metabolic Disorders
• Inborn Errors in Metabolism-Medical Biochemistry Page
• PEDINFO Conditions and Diseases-Inborn Errors of Metabolism
• The United Mitochondrial Disease Foundation
• Lysosomal Storage Diseases A Family Sourcebook Reference Chart
• Metabolic Database
• Research Trust for Metabolic Diseases in Children Home Page
• The Gateway Kiosk Open Topic Forum
• Society Inborn Errors of Metabolis-HOMEPAGE
• Society for the Study of Inborn Errors of Metabolism
• SOCIETY FOR INHERITED METABOLIC DISORDERS
• Database of Inherited Metabolic Diseases
• Metabolic Information Network
• Metabolic & Degenerative Diseases-Dreighton University Medical Center
• Rare Genetic Diseases-Gateway Kiosk
• Center for Inherited Disorders of Energy Metabolism (CIDEM)

Memrane Transport Systems

• Cystinosis Central

Mitochondrial Disease

• Mitochondrial Diseases Center
• Mitochondria - Structure-Function Correlations
• Mitochondrial and Metabolic Diseases Center
• Mitochondrial Disease Descriptions (Database)
• Mitomap's Listing of Helpful Links
• Inherited Disorders of Energy Metabolism (CIDEM)

Organic Acid

• Fatty Acid Oxidation Disorders-Network Online
• Fatty acid Oxidation Disorder - Network
• Inherited Disorders of Energy Metabolism (CIDEM)
• International Organization of Glutaric Acidemia - HomePage
• Mitomap's Listing of Helpful Links
• Mitochondria - Structure-Function Correlations
• Mitochondrial and Metabolic Diseases Center
• Mitochondrial Disease Descriptions (Database)
• Mitochondrial Diseases Center
• Mitochondrial Disorders - review by Simon and Johns,1999
• Mitochondrial Disorders-HomePage
• Mitochondrial Disorders-text short
• Mitochondrial syndromes
• Medium chain acyl-coA dehydrogenase deficiency - review
• Organic Acidemia - University of Kansas Medical Center

Peroxisomes

• Adrenoleukodystrophy - Pediatric Encyclopedia
• Adrenoleukodystrophy - Homepage
• Adrenoleukodystrophy - International Research Group
• Adrenoleukodystrophy - minireview
• Adrenoleukodystrophy - A Case Study Using the Film Lorenzo's Oil

Vitamins

• DIAGNOSIS AND MANAGEMENT OF VITAMIN B12 DEFICIENCY-Guidelines and Statements

Purines and Pyrimidines

• The Purine Metabolic Patient's Association (PUMPA)
• Lesch-Nyhan mini fact sheet

AMINO ACID

• Maple Syrup Urine Disease - Family Support Group

General Aspects

• Biochemistry of Amino Groups
• Amino Acid Metabolism-Medical Biochemistry Page

Phenylketonuria

• Phenylketonuria - TOC- J. Pediatrics,159,14,2000
• Phenylketonuria Organization of Wisconsin Inc.
• Phenylalanin Hydroxilase Mutations Database Home page
• Phenylalanin Hydroxylase Locus - Mutations Database Home page
• Phenylketonuria (PKU)-fact sheet, WWW - Family Village
• Phenylketonuria fact sheet - Baby Net PKU
• Phenylketonuria News Home Page
• Phenilketonuria of Florida Home Page
• Phenylketonuria-fact sheet
• Phenylalanine Hydroxylase Locus Database Home Page
• Phenylalanin Hydroxylase Mutations Database
• Screening for Phenylketonuria-review
• Phenylketonuria-University of Kansas Medical Center

Tetrahydrobiopterin Deficiencies

• International Database of Tetrahydrobiopterin Deficiencies
• Official Home of Tetrahydrobiopterin (BH4)
• Tetrahydrobiopterin Home Page

BLOOD AND BLOOD FORMING TISSUE

• Alpha 1 Antitrypsin Deficiency - fact sheet (Am Liver Found)

Amyloidosis

• Amyloidosis Hereditary - Pediatric Encyclopedia
• Amyloidosis - Boston School of Medicine

Glucose-6-Phosphate Dehydrogenase Deficiency

• Glucose-6-Phosphate Dehyrogenase Deficiency - Handbook online
• Glucose-6-Phosphate Dehydrogenase Deficiency
• Glucose-6-phosphate dehydrogenase deficiency - Pediatric Encyclopedia

CARBOHYDRATE

• Hereditary Fructose Intolerance (HFI)-Aldolase WWW
• DNA Testing for Fructose Intolerance
• Lactose Intolerance-Virtual Hospital

Galactosemia

• Galactosemia-text
• Galactosemia Resources and Information
• Parents of Galactosemic Children
• The Galactose-1-Phosphate Uridyl Transferase Mutation Analysis Database Home Page
• Galactosemia - factsheet (Vermont)
• Galactose Content in Foods (Galactose Controlled Diet)
• Newborn Screening Program Galactosemia (Vermont)

Glycogen Storage Diseases

• Association for Glycogen Storage Disease (UK)
• Glycogen Storage Disease Type III-article
• McARDLE DISEASE-mini fact sheet
• McArdle's Disease Home Page
• Pompe disease - Home Page
• Glycogen Storage disease-Univ Kanzas Med Center
• Type XI, Fanconi-Bickel Syndrome - Pathological Case

Carbohydrate Deficiency Glycoprotein Syndrome

• Carbohydrate Deficiency Glycoprotein Syndrome-Society Home
• Congenital disorders of glycosylation-articles 2000

METALS

Haemochromatosis

• DNA Testing for Haemochromatosis
• Hemochromatosis-Virtual Hospital
• Hemochromatosis Clinic-Univ.Pennsylvania
• Hemochromatosis-Text-Pathology Image
• Haemochromatosis - Public Health Genetics Unit (articles,links)
• THE CANADIAN HEMOCHROMATOSIS SOCIETY
• Iron-Storage Diseases - Handbook online
• Contribution of different HFE genotypes to iron overload disease-article 2000
• The Elusive Hemochromatosis Gene - by Bruce R. Bacon, M

PORPHYRINS AND HEME

Hereditary Jaundice and Disorders of Bilirubin Metabolism

• Jaundice Neonatal-Virtual Hospital
• Neonatal Jaundice (Hyperbilirubinemia)-review

The Porphyrias

• Cheryl Ann's Porphyria Page
• Porphyria - In Memory of Jacquie
• Porphyria Page-quide
• Porphyria-Mara's personal page
• Сanadian Porphyria Foundation
• The American Porphyria Foundation
• Porphyria - A Patient's Guide
• Centre Franзais des Porphyries
• Porphyria - Lecture notes- M.Smith
• Erythropoietic Protoporphyria - DermIS Atlas

LYSOSOMAL ENZYMES

• I Cell Disease - The On-Line Airway Atlas
• International Society for Mannosidosis & Related Diseases, Inc.
• Krabbes Disease Home Page - Personal (Patient)
• Leukodystrophy with Megalencephaly-Baylor Neurology Case of the Month
• Mucolipidosis IV Foundation - Home Page
• Sandhoff disease mini fact sheet

General Aspects

• Lysosomal Diseases Australia
• The Myelin Project-Leukodystrophy,demyelinating disorders
• Lysosomal Storage Diseases-Prenatal Diagnosis, Gene Therapy
• Lysosomal Storage Diseases - Home Page
• Disorders of Glycosphingolipid Metabolism-The Medical Biochemistry Page

Fabry Disease

• Angiokeratoma Corporis Circumscriptum (Fabry)-DermIS Atlas

Gaucher Disease

• Gaucher Disease - The Human Gene Map
• Gaucher Disease - GeneClinic-review2000
• Gauchers mini fact sheet
• Gaucher disease, type 1 - OMIM entry 230800
• Gaucher disease, type II - OMIM entry 230900
• Gaucher disease, type III - OMIM entry 231000
• Gaucher Disease-DNA Testing - fact sheet
• Gaucher Disease-Fact Sheet
• Gaucher Disease-Nat.Inst.Health(rev1995)
• Gaucher Disease - Home Page
• The Comprehensive Gaucher Disease Treatment Center

Mucopolysacharidoses

• Mucopolysacharidoses-Textbook of Orthopaedics
• Raefs Page - Hurler Syndrome
• Hurler Syndrome MPS I H
• Mucopolysaccharidosis
• NORD - Hurler Syndrome
• Hurler s.-Gateway Kiosk
• Slide Classification of Mucopolysaccharidoses
• Mucopolysaccharidosis, type 1 - OMIM entry 252800
• Mucopolysaccharidosis - Mutation Database (HUGO,OMIM)
• Lysosomal Alpha-glucosidase Deficiency-Mutations
• The Canadian Society for Mucopolysaccharide
• Mucopolysaccharidosis dis.-Mutation Database-(Minnesota)
• newly described lysosomal disorder, mucopolysaccharidosis IX -article by Triggs-Raine et al. 1999
• Welcome to The Canadian MPS Society

Neuronal Ceroid Lipofuscinoses-Batten Disease

• Neuronal Ceroid Lipofuscinoses - Mutations
• Batten Disease Support and Research Association
• Neuronal ceroid lipofuscinoses - Batten Disease Support&Research Association

Tay-Sachs disease

• Tay-Sachs Foundation-North Texas Chapter
• March of Dimes Tay-Sachs Disease
• National Tay-Sachs & Allied Diseases Association
• National Tay-Sachs & Allied Diseases Association-Valley
• National Tay-Sachs&Allied Diseases of Ontario
• Tay-Sachs Disease mini fact sheet
• Late Onset Tay-Sachs Disease
• Amaurotic familial idiocy - Pediatric Encyclopedia
• GM2 Gangliosidoses-review by MM Kaback-GeneClinics1999

Pelizaeus-Merzbacher disease

• Pelizaeus-Merzbacher disease-review by J Garbern-GeneClinics1999
• Pelizaeus-Merzbacher disease mini fact sheet

The Niemann-Pick Group Disease

• National Niemann-Pick Disease Foundation, Inc.
• Niemann-Pick disease mini sheet
• Pick's disease mini fact sheet

LIPOPROTEIN AND LIPID METABOLISM DISORDERS

• Dyslipidemias-Virtual Hospital
• Abetalipoproteinemia(Bassen-Kornzweig s.)-Pediatric Encyclopedia
• The low density lipoprotein receptor (LDLR) gene in familial hypercholesterolemia

Familial hypercholesterolaemia

• Extent of underdiagnosis of familial hypercholesterolaemia in routine practice-article by Neil et al.(2000)
• Screening for familial hypercholesterolaemia - editorial 2000