|
IMD |
Specialist |
Location |
|
Alkaptonuria |
Dr L Ranganath |
Liverpool |
|
Alpha-1 Antitrypsin Deficiency |
Professor D Kelly |
Birmingham |
|
Alstrom Syndrome
family story on Alstrom |
Professor T Barrett |
Birmingham |
|
Arginase Deficiency |
Dr E Murphy |
London |
|
Arginino Succinic Aciduria |
Dr S Vijay |
Birmingham |
|
Amyloidosis and inherited fevers |
Dr H Lachmann |
London |
|
Battens General |
Dr R Williams |
London |
|
Canavan’s Disease |
Dr E Wassmer |
Birmingham |
|
Citrin Deficiency |
Dr R Ramachandran |
London |
|
Citrullinaemia |
Dr A Chakrapani |
Birmingham |
|
Congenital Adrenal Hyperplasia in
Adults |
Professor R Ross |
Sheffield |
|
Congenital Adrenal Hyperplasia in
Children |
Nurse Specialist Kate Davies |
London |
|
Congenital Disorders of
Glycosylation |
Dr S Grunewald |
London |
|
Congenital Disorders of
Glycosylation and CDG 1A and 1B |
Dr S Grunewald and Professor H Freeze |
|
|
CPT1 |
Dr Y Rahman |
London |
|
CPT2 |
Dr Y Rahman |
London |
|
Cystinosis |
Professor T Cox |
Cambridge |
|
Cystinuria |
Dr Y P Teoh |
Wales |
|
Cushing Syndrome |
Mr. A Farine |
Nottingham |
|
Ehlers Danlos Syndrome |
Sue Maillard |
London |
|
Erythropoietic Protoporphyria |
Dr A Anstey |
Wales |
|
Fabry Disease |
Dr D Hughes |
London |
|
Fabry Disease |
Nurse Specialist Lorraine Thompson |
Manchester |
|
Familial Hypercholesterolaemia |
Professor S Humphries |
London |
|
Familial Pituitary Adenomas and
Acromegaly |
Professor M Korbonits |
London |
|
Galactosaemia |
Dr P Galloway |
Glasgow |
|
Gaucher Disease |
Professor A Mehta |
London |
|
Glycogen Storage Disorders Type
1A and 1B |
Dr C Hendriksz |
Birmingham |
|
Glycogen Storage Disorder II-
Pompe |
Dr S Waldek |
Manchester |
|
Glycogen Storage Disorder V-
McArdles Disease- |
Dr R Quinlivan |
Wales |
|
Glutaric Aciduria Type 1 |
Nurse Specialist Louise Simmons |
Birmingham |
|
Glutaric Aciduria Type 2- |
Dr T Hiwot |
Birmingham |
|
Homocystinuria |
Dr P Galloway |
Glasgow |
|
HMG CoA-Lyase Deficiency |
Dr T Hiwot |
Birmingham |
|
Hypophosphatasia |
Dr W Högler |
Birmingham |
|
Isovaleric Aciduria |
Dr J Bonham |
Sheffield |
|
Leigh Disease and Mitochondrial’s |
Dr A Morris |
Manchester |
|
Leukodystrophy |
Dr E Wassmer |
Birmingham |
|
Lysinuric Protein Intolerance |
Dr P Gissen |
Birmingham |
|
Maple Syrup Urine Disease |
Dr A Morris |
Manchester |
|
Maple Syrup Urine disease and
Non-Ketotic hyperglycinaemia |
Dr A Morris |
Manchester |
|
MCADD Now and the future |
Dr M Champion |
London |
|
MCADD |
Dr M Champion |
London |
|
Metabolic Bone disease including
Vitamin D
Osteogenesis Imperfecta |
Dr T Mushtaq |
Leeds |
|
Metachromatic Leukodystrophy |
Mr. D Suhr |
America |
|
Methylmalonic Aciduria |
Dr S Grunewald |
London |
|
Mitochondrial Overview |
Professor D Turnbull |
Newcastle |
|
MPS I Hurler and Stem Cell
Transplantation |
Nurse Specialist Jean Mercer and Dr R Wynn |
Manchester |
|
MPS II Hunter disease |
Nurse Specialist Jane Roberts |
Manchester |
|
MPS III Sanfillippo disease |
Nurse Specialist Gill Moss |
Manchester |
|
MPS IV Morquio Disease |
Dr S Jones |
Manchester |
|
Non-Ketotic Hyperglycinaemia |
Dr A Morris |
Manchester |
|
Niemann Pick type A,B,C |
Nurse Specialist Jackie Imrie |
Manchester |
|
Ornithine Transcarbamylase
Deficiency |
Professor P Clayton |
London |
|
Osteogenesis Imperfecta |
Professor F Ahmed |
Glasgow |
|
Phenylketonuria |
Dr J Walter |
Manchester |
|
Phenylketonuris and Tyrosinaemia
type 2 |
Dr R Lachmann |
London |
|
Porphyrias |
Dr M Badminton |
Wales |
|
Primary Carnitine Deficiency |
Dr Y Rahman |
London |
|
Propionic Acidaemia |
Dr A Chakrapani |
Birmingham |
|
Refsum Disease |
Dr A Wierzbicki |
London |
|
Sickle Cell |
Dr J Howard |
London |
|
Tangier Disease |
Dr P Deegan |
Cambridge |
|
Tay Sachs Disease |
Professor T Cox |
Cambridge |
|
Thalassaemia |
Dr F Shah |
London |
|
Thalassaemia
in Urdu |
Dr F Shah |
London |
|
Trimethyalminuria |
Dr R Lachmann |
London |
|
Tyrosinaemia type 1 |
Dr P McKiernan |
Birmingham |
|
Turner Syndrome |
Dr N Meston |
Oxford |
|
Wilson’s disease |
Dr P McKiernan |
Birmingham |
|
Wolman’s Disease and Cholesteryl
Ester
Storage Disorder |
Dr S Waldek |
Manchester |
|
Diets in Long Chain Fatty
oxidation disorders
(family stories on VLCADD and
LCHAD) |
Dr A MacDonald |
Birmingham |
|
IMD diets |
Dr A MacDonald |
Birmingham |
|
Metabolic Diets- a general
overview |
Dietician Inderdip Hunjan |
Bradford |
|
Around the Laboratory |
Dr M Henderson |
Leeds |
|
Bio-markers in Lysosomal Storage
Disorders |
Dr P Deegan |
Cambridge |
|
Congenital Adrenal Hyperplasia-
Surgery |
Mr S Hennayake |
Manchester |
|
Crisis management in Fatty
Oxidation Disorders
and MCADD |
Dr M Sharrard |
Sheffield |
|
Diagnosing Mitochondrial’s |
Professor R Taylor |
Newcastle |
|
Enzyme Replacement Therapy |
Dr S Waldek |
Manchester |
|
Eyes and Eye Clinic, including
Marfan Syndrome, Lebers hereditary Optic Neuropathy and Retinitis Pigmentosa |
Dr S Jain |
London |
|
Eyes and MPS - Covering all MPS
conditions |
Dr J Ashworth |
Manchester |
|
Batten Disease ongoing research |
Dr J Cooper |
London |
|
Extended New Born Screening |
Dr J Bonham |
Sheffield |
|
Genetics and Genetic Counselling |
Dr A Dobbie and Mrs S Sharif |
Leeds |
|
Introduction to an NHS
Laboratory |
Dr M Henderson |
Leeds |
|
Liver Transplantation surgery |
Dr K Sharif |
Birmingham |
|
Metabolic Disease the basics |
Professor U Oppermann, Dr Lee
and Dr Y Wyatt |
Oxford |
|
Newborn Screening |
Dr J Bonham |
Sheffield |
|
Organic Acidaemias |
Dr S Vijay |
Birmingham |
|
Pregnancy and Inherited metabolic
diseases |
Dr R Lachmann |
London |
|
Rare Diseases, Rare Discoveries
and the
common Good |
Professor H Freeze |
America |
|
The role of the child development
Centre |
Dr P Corry |
Bradford |
|
Transition- general |
Dr J McDonagh |
Birmingham |
|
Tube feeding for all ages |
Dr J Puntis and Gill Lazonby |
Leeds |
|
Urea Cycles in the UK and the
role of the EUCDG |
Dr A Chakrapani |
Birmingham |
