[HTML][HTML] Diagnosis and management of glutaric aciduria type I–revised recommendations
S Kölker, E Christensen, JV Leonard… - Journal of inherited …, 2011 - Springer
Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria.
Untreated patients characteristically develop dystonia during infancy resulting in a high …
Untreated patients characteristically develop dystonia during infancy resulting in a high …
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
N Boy, C Mühlhausen, EM Maier, J Heringer… - Journal of inherited …, 2017 - Springer
Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic
disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic …
disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic …
Glutaryl‐CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations
SI Goodman, DE Stein, S Schlesinger… - Human …, 1998 - Wiley Online Library
Glutaric acidemia type I (GA1) is caused by mutations in the gene encoding the enzyme
glutaryl‐CoA dehydrogenase (GCD). Sixty‐three pathogenic mutations identified by several …
glutaryl‐CoA dehydrogenase (GCD). Sixty‐three pathogenic mutations identified by several …
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
G Bonne, MRD Barletta, S Varnous, HM Bécane… - Nature …, 1999 - nature.com
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of elbows
and Achilles tendons, slowly progressive muscle wasting and weakness, and a …
and Achilles tendons, slowly progressive muscle wasting and weakness, and a …
[HTML][HTML] Enzyme-replacement therapy in life-threatening hypophosphatasia
MP Whyte, CR Greenberg, NJ Salman… - … England Journal of …, 2012 - Mass Medical Soc
Background Hypophosphatasia results from mutations in the gene for the tissue-nonspecific
isozyme of alkaline phosphatase (TNSALP). Inorganic pyrophosphate accumulates …
isozyme of alkaline phosphatase (TNSALP). Inorganic pyrophosphate accumulates …
[HTML][HTML] Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene
CA Stanley, YK Lieu, BYL Hsu, AB Burlina… - … England Journal of …, 1998 - Mass Medical Soc
Background A new form of congenital hyperinsulinism characterized by hypoglycemia and
hyperammonemia was described recently. We hypothesized that this syndrome of …
hyperammonemia was described recently. We hypothesized that this syndrome of …
[PDF][PDF] Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11. 2
LS Schmidt, MB Warren, ML Nickerson… - The American Journal of …, 2001 - cell.com
Birt-Hogg-Dubé syndrome (BHD), an inherited autosomal genodermatosis characterized by
benign tumors of the hair follicle, has been associated with renal neoplasia, lung cysts, and …
benign tumors of the hair follicle, has been associated with renal neoplasia, lung cysts, and …
[HTML][HTML] Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency
S Kölker, SF Garbade, CR Greenberg, JV Leonard… - Pediatric …, 2006 - nature.com
Glutaryl-CoA dehydrogenase (GCDH) deficiency is a rare inborn disorder of l-lysine, l-
hydroxylysine, and l-tryptophan metabolism complicated by striatal damage during acute …
hydroxylysine, and l-tryptophan metabolism complicated by striatal damage during acute …
[PDF][PDF] Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin–ligase gene
Limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild autosomal recessive myopathy
that was first described in the Manitoba Hutterite population. Previous studies in our …
that was first described in the Manitoba Hutterite population. Previous studies in our …
[PDF][PDF] TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
Joubert syndrome related disorders (JSRDs) have broad but variable phenotypic overlap
with other ciliopathies. The molecular etiology of this overlap is unclear but probably arises …
with other ciliopathies. The molecular etiology of this overlap is unclear but probably arises …