Galactosemia: Biochemistry, molecular genetics, newborn screening, and treatment
Galactosemia is an inborn disorder of carbohydrate metabolism characterized by the
inability to metabolize galactose, a sugar contained in milk (the main source of nourishment …
inability to metabolize galactose, a sugar contained in milk (the main source of nourishment …
Update on identification and treatment of infants and toddlers with suspected childhood apraxia of speech
Purpose: The purpose of this tutorial is to (a) provide an updated review of the literature
pertaining to proposed early features of childhood apraxia of speech (CAS),(b) discuss the …
pertaining to proposed early features of childhood apraxia of speech (CAS),(b) discuss the …
Current and future treatments for classic galactosemia
B Delnoy, AI Coelho, ME Rubio-Gozalbo - Journal of Personalized …, 2021 - mdpi.com
Type I (classic) galactosemia, galactose 1-phosphate uridylyltransferase (GALT)-deficiency
is a hereditary disorder of galactose metabolism. The current therapeutic standard of care, a …
is a hereditary disorder of galactose metabolism. The current therapeutic standard of care, a …
[HTML][HTML] Infants' neural speech discrimination predicts individual differences in grammar ability at 6 years of age and their risk of developing speech-language …
The 'sensitive period'for phonetic learning posits that between 6 and 12 months of age,
infants' discrimination of native and nonnative speech sounds diverge. Individual differences …
infants' discrimination of native and nonnative speech sounds diverge. Individual differences …
Translating principles of precision medicine into speech-language pathology: Clinical trial of a proactive speech and language intervention for infants with classic …
B Peter, J Davis, L Finestack, C Stoel-Gammon… - Human Genetics and …, 2022 - cell.com
Precision medicine is an emerging approach to managing disease by taking into
consideration an individual's genetic and environmental profile toward two avenues to …
consideration an individual's genetic and environmental profile toward two avenues to …
The importance of neonatal screening for galactosemia
I Badiu Tișa, AC Achim, A Cozma-Petruț - Nutrients, 2022 - mdpi.com
Galactosemia is an inborn metabolic disorder caused by a deficient activity in one of the
enzymes involved in the metabolism of galactose. The first description of galactosemia in …
enzymes involved in the metabolism of galactose. The first description of galactosemia in …
Review of methods for conducting speech research with minimally verbal individuals with autism spectrum disorder
KV Chenausky, M Maffei… - Augmentative and …, 2023 - Taylor & Francis
The purpose of this paper was to review best-practice methods of collecting and analyzing
speech production data from minimally verbal autistic speakers. Data on speech production …
speech production data from minimally verbal autistic speakers. Data on speech production …
Dynamic Temporal and Tactile Cueing in young children with childhood apraxia of speech: A multiple single-case design
Purpose: Childhood apraxia of speech (CAS) is a multivariate motor speech disorder that
requires a motor-based intervention approach. There is limited treatment research on young …
requires a motor-based intervention approach. There is limited treatment research on young …
Feasibility of a proactive parent-implemented communication intervention delivered via telepractice for children with classic galactosemia
Purpose: This study evaluated the feasibility of Babble Boot Camp (BBC) for use with infants
with classic galactosemia (CG) starting at less than 6 months of age. BBC is a parent …
with classic galactosemia (CG) starting at less than 6 months of age. BBC is a parent …
Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech …
BCL11A is implicated in BCL11A‐Related Intellectual Development Disorder (BCL11A‐
IDD). Previously reported cases had various types of BCL11A variants (copy‐number …
IDD). Previously reported cases had various types of BCL11A variants (copy‐number …