Metabolic disorders

Clinical mitochondrial genetics
Patrick F Chinnery, Neil Howell, Richard M Andrews, Douglass M Turnbull

Journal of Medical Genetics Jun 1999, 36 (6) 425-436; DOI: 10.1136/jmg.36.6.425
A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants
Y V Voznyi, J L M Keulemans, G M S Mancini, C E Catsman-Berrevoets, E Young, B Winchester, W J Kleijer, O P van Diggelen

Journal of Medical Genetics Jun 1999, 36 (6) 471-474; DOI: 10.1136/jmg.36.6.471
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria
Pekka Arvio, Maria Arvio, Matti Kero, Sinikka Pirinen, Pirjo-Liisa Lukinmaa

Journal of Medical Genetics May 1999, 36 (5) 398-404; DOI: 10.1136/jmg.36.5.398
Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR₃₀₀₀ (∼5.4 Mb) interval on chromosome 6q
Rebecca J Gardner, Andrew J Mungall, Ian Dunham, John C K Barber, Julian P H Shield, I Karen Temple, David O Robinson

Journal of Medical Genetics Mar 1999, 36 (3) 192-196; DOI: 10.1136/jmg.36.3.192
Microdeletion 22q11 and oesophageal atresia
Maria Cristina Digilio, Bruno Marino, Pietro Bagolan, Aldo Giannotti, Bruno Dallapiccola

Journal of Medical Genetics Feb 1999, 36 (2) 137-139; DOI: 10.1136/jmg.36.2.137
Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18
C Dacou-Voutetakis, A Sertedaki, M Maniatis-Christidis, C Sarri, G Karadima, M B Petersen, A Xaidara, M Kanariou, P Nicolaidou

Journal of Medical Genetics Feb 1999, 36 (2) 156-158; DOI: 10.1136/jmg.36.2.156
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome)
Peining Li, Amy B Bellows, Jerry N Thompson

Journal of Medical Genetics Jan 1999, 36 (1) 21-27; DOI: 10.1136/jmg.36.1.21
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel α-N-acetylglucosaminidase gene mutations
Susanna Bunge, Astrid Knigge, Cordula Steglich, Wim J Kleijer, Otto P van Diggelen, Michael Beck, Andreas Gal

Journal of Medical Genetics Jan 1999, 36 (1) 28-32; DOI: 10.1136/jmg.36.1.28

Main menu

Metabolic disorders

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

Metabolic disorders

Pages