… CM Lourenco has received speaker honoraria from Actelion, Alexion, and Shire. All fees
are donated to the CML Medical Foundation for Research and Diagnosis Support, helping …

Adenosine deaminases acting on RNA (ADARs) catalyze the hydrolytic deamination of
adenosine to inosine in double-stranded RNA (dsRNA) and thereby potentially alter the …

… In order to identify other genes involved in AGS, we conducted a SNP array genome-wide
scan using affected individuals from these four families, and identified a 2-cM region of shared …

Additional neurological features have recently been described in seven families transmitting
pathogenic mutations in OPA1, the most common cause of autosomal dominant optic …

Background Fabry’s disease, an X-linked disorder of lysosomal α-galactosidase deficiency,
leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic …

Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic
those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations …

Background Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations,
resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates…

Background Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by
mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and …

Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of
the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This …

Boucher-Neuhäuser and Gordon Holmes syndromes are clinical syndromes defined by
early-onset ataxia and hypogonadism plus chorioretinal dystrophy (Boucher-Neuhäuser …