H
H.-H. M. Dahl
Researcher at Royal Children's Hospital
Publications - 13
Citations - 1787
H.-H. M. Dahl is an academic researcher from Royal Children's Hospital. The author has contributed to research in topics: Point mutation & Hearing loss. The author has an hindex of 11, co-authored 13 publications receiving 1705 citations. Previous affiliations of H.-H. M. Dahl include University of Melbourne.
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Journal ArticleDOI
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
Shamima Rahman,R. B. Blok,H.-H. M. Dahl,David M. Danks,Denise M. Kirby,Chung Wo Chow,John Christodoulou,David R. Thorburn +7 more
TL;DR: The etiology of Leigh syndrome is investigated in 67 Australian cases from 56 pedigrees, 35 with a firm diagnosis and 32 with some atypical features, and no strong correlation between the clinical features and basic defects is found.
Journal ArticleDOI
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
F J del Castillo,Montserrat Rodríguez-Ballesteros,Araceli Álvarez,Hutchin Tp,Emanuela Leonardi,C. A. M. de Oliveira,Hela Azaiez,Zippora Brownstein,Matthew R. Avenarius,Sandrine Marlin,Arti Pandya,Hashem Shahin,Kirby Siemering,Dominique Weil,Wim Wuyts,Luis A. Aguirre,Y. Martin,M A Moreno-Pelayo,Manuela Villamar,Karen B. Avraham,H.-H. M. Dahl,Moien Kanaan,Walter E. Nance,Christine Petit,Richard J.H. Smith,G. Van Camp,Edi Lúcia Sartorato,Alessandra Murgia,F Moreno,I del Castillo +29 more
TL;DR: The finding of a large number of affected subjects with only one GJB2 mutant allele complicates the molecular diagnosis of DFNB1 deafness, which has become the standard of care for the diagnosis of patients with non-syndromic hearing impairment of unknown cause.
Journal ArticleDOI
Respiratory chain complex I deficiency: An underdiagnosed energy generation disorder
TL;DR: Heterogeneous clinical features, tissue specificity, and absence of lactic acidosis or abnormal mitochondrial morphology in many patients have resulted in underdiagnosis of respiratory chain complex I deficiency.
Journal Article
Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets
Isaiah D. Wexler,S. G. Hemalatha,Judy McConnell,N. R M Buist,H.-H. M. Dahl,Susan A. Berry,Stephen D. Cederbaum,Mulchand S. Patel,Douglas S. Kerr +8 more
TL;DR: It appears that a nearly carbohydrate-free diet initiated shortly after birth may be useful in the treatment of E1 deficiency, a clinically heterogeneous disorder with most mutations located in the coding region of the X-linked α subunit of the first catalytic component, pyruvate dehydrogenase (E1).
Journal ArticleDOI
Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.
H.-H. M. Dahl,Garry K. Brown,Ruth M. Brown,Lise Lotte Hansen,Douglas S. Kerr,Isaiah D. Wexler,Mulchand S. Patel,L. De Meirleir,Willy Lissens,Kathy Chun,N. MacKay,Brian H. Robinson +11 more
TL;DR: An update on mutations and polymorphisms in the human X chromosome located pyruvate dehydrogenase E1α gene is presented, with a total of 20 different mutations being tabulated.