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Centre for Metabolic Diseases

Metabolic Diseases

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Disease		Also Known As
Bannayan Riley Ruvalcaba Syndrome		Bannayan Syndrome
Bardet-Biedl Syndrome		BBS
Bartter Syndrome		Hypokalemic Alkalosis with Hypercaluria
Batten Disease - General		Neuronal Ceroid Lipofuscinosis
Batten Disease - Adult Form		Kufs' Disease
Batten Disease - Infantile Form		Santavouri Disease
Batten Disease - Juvenile Form		Spielmeyer-Vogt-Sjogren Disease
Batten Disease - Late Infantile Form		Jansky-Bielschowski Disease
Batten Disease - Northern Epilepsy		Progressive Epilepsy with Mental Retardation/PEMR
Batten Disease - Variant Forms		Finnish Late Variant, Turkish Late Infantile, Variant Late Infantile
Beals Syndrome		Congenital Contractural Arachnodactyly
Becker Muscular Dystrophy		BMD
Beckwith-Wiedemann Syndrome		BWS
BEHR Syndrome		Optic Atrophy Ataxia Syndrome
Bernard Soulier Syndrome		Giant Platelet Syndrome
Bethlem Myopathy		Benign Congenital Muscular Dystrophy
Bilateral Striatal Necrosis		Striatal Degeneration
Biopterin Metabolism Defects		Biopterin Deregulation
Biotinidase Deficiency
Bisphosphoglycerate Mutase Deficiency		BPGM Deficiency
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome		BPES
Bloom Syndrome		BS
Blue Diaper Syndrome		Drummonds Syndrome
Blue Rubber BLEB Nevus Syndrome		Bean Syndrome