Results 271 to 280 of about 41,797 (336)

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage.
Eamon P. McCarron   +8 more
wiley   +1 more source

Soft jamming of viral particles in nanopores. [PDF]

open access: yesNat Commun
Chazot-Franguiadakis L   +14 more
europepmc   +1 more source

Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Difficulties with feeding and digestion are common in individuals with CHARGE syndrome. Animal models with CHD7 gene variants demonstrate abnormal gut innovation and dysmotility. Our pilot study evaluated whether individuals with CHARGE syndrome have differences in their gut microbiome compared to unaffected siblings.
Emily R. Chedrawe   +5 more
wiley   +1 more source

Association Between Polygenic Risk and Symptom Severity Change After Cognitive Behavioral Therapy for Obsessive‐Compulsive Disorder

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A large proportion of patients undergoing cognitive behavior therapy (CBT) for obsessive‐compulsive disorder (OCD) do not respond sufficiently to treatment. Identifying predictors for change in symptom severity after treatment could inform clinical decision‐making, allow for better‐tailored interventions, and avoid treatment failure.
Julia Bäckman   +39 more
wiley   +1 more source

Home - About - Disclaimer - Privacy