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galactosemia

Synonyms

Noun

1. inborn error of metabolism

Usage
Galactose mutarotase deficiency as the galactosemia type IV - Nature
Contraindications to Breastfeeding - Centers for Disease Control and Prevention | CDC (.gov)
Jared Druss - Emory School of Medicine
'Control Lab' gets their reps in to support Children's Hospital of Philadelphia - 6abc Philadelphia
Cycle buying Applied Therapeutics to develop CNS drugs - BioWorld News
Mother channels fear into advocacy after son’s rare disease diagnosis - WSOC TV
Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience - Wiley Online Library
Why pharma is still far from a treatment for galactosemia - Clinical Trials Arena
FDA Issues CRL for Govorestat Application As Treatment for Classic Galactosemia - NeurologyLive
Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots - Frontiers
How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails - Children's National Hospital
Applied Tx lays off 46% of workforce as rare disease drug approval looks out of reach - Fierce Biotech
Teaching NeuroImages: Galactitol peak and fatal cerebral edema in classic galactosemia - Neurology® Journals
Applied still pursuing govorestat approval for CMT-SORD, despite late-stage miss - FirstWord Pharma
Wait for galactosemia therapy goes on after FDA shuns Applied Therapeutics’ govorestat - Pharmaceutical Technology
FDA extends review period for govorestat to treat classic galactosemia - Contemporary Pediatrics
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG) - Nature
After surprise trial listing, Applied Tx still doesn't have any updates on its rare disease asset - Fierce Biotech
Galactosemia, a Single Gene Disorder With Epigenetic Consequences - Nature
Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia - Nature
Milk or no milk? Study fills long‑time knowledge gap on babies with genetic disorder - WSU Insider
Galactosemia Foundation Urges FDA to Incorporate Voice of the Patient in Review of Potential First Treatment for Children with Life-Altering Rare Disease - PR Newswire
New Resource for the Galactosemia Community Launches to Empower Families as They Navigate Lifelong Genetic Disease - Business Wire
Low prevalence of classical galactosemia in Korean population - Nature
Long-term speech and language developmental issues among children with Duarte galactosemia - Nature
Applied Therapeutics Crashes After FDA Rejection of Rare Disease Drug - BioSpace
Social cognition, emotion regulation and social competence in classical galactosemia patients without intellectual disability - Cambridge University Press & Assessment
Verbal Dyspraxia and Galactosemia - Nature
Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model - Nature
APLT Stock Plunges 77% After FDA Issues CRL for Galactosemia Drug NDA - Yahoo Finance
Jaguar Gene Therapy Presents Preclinical Data of JAG101 in Type 1 Galactosemia at American Society of Gene and Cell Therapy 25th Annual Meeting - Business Wire
Two siblings with galactose mutarotase deficiency: Clinical differences - Yazici - - JIMD Reports - Wiley Online Library
Galactokinase deficiency: lessons from the GalNet registry - Nature
StockWatch: FDA Surprise Lifts Expectations for Applied’s Govorestat - Genetic Engineering and Biotechnology News
Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia - Nature
FDA Extends Review Period for Applied Therapeutics’ Govorestat by Three Months - BioSpace
Elevated Carbohydrate-Deficient Transferrin (CDT) and Its Normalization on Dietary Treatment as a Useful Biochemical Test for Hereditary Fructose Intolerance and Galactosemia - Nature
Congenital Cataracts - Consultant360
Applied Therapeutics Announces Launch of Galactosemia Awareness and Education Initiative - GlobeNewswire
Gene Editing, Gattaca, and Galactosemia - dailycampus.com
Effects of temporary low-dose galactose supplements in children aged 5–12 y with classical galactosemia: a pilot study - Nature
Classical galactosaemia: novel insights in IgG N -glycosylation and N -glycan biosynthesis - Nature
Mutations at the Galactose-1-P-Uridyltransferase Gene in Infants with a Positive Galactosemia Newborn Screening Test - Nature
Hillsboro non-profit Azrael's Wish will host fundraiser for galactosemia Sunday - OregonLive.com
Functional correction by antisense therapy of a splicing mutation in the GALT gene - Nature
The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations - Nature
Poland Expands Newborn Screening Program to Include Rare Genetic Disorders - NAVLIN DAILY
US FDA declines to approve Applied Therapeutics' genetic disease drug - Reuters
Deadly Delays: Aiden Cooper's story - Milwaukee Journal Sentinel
Applied Therapeutics Seeks NDA for Rare Pediatric Disease Drug Despite Phase III Failure - BioSpace
Applied Therapeutics Provides Regulatory Update on Galactosemia Program - GlobeNewswire
Applied Therapeutics Provides Regulatory Update on Galactosemia Program - GlobeNewswire
A rare disease: Two local boys live with galactosemia - Manchester TImes
30M Americans have a rare disease - WCAX
Applied Therapeutics receives EMA orphan designation for AT-007 - Pharmaceutical Technology
Bad to worse for Applied Therapeutics as FDA slaps partial clinical hold on rare drug - Fierce Biotech
3 tips to dealing with a rare disease diagnosis - Asbury Park Press
US FDA extends review of Applied Therapeutics' genetic disease drug - Reuters
Louis J. “Skip” Elsas II, MD, FACMG - Nature
East York family raising money for galactosemia research - Toronto.com
Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase ( GALT ) gene - Nature
Sepsis Due to Escherichia coli in Neonates with Galactosemia - NEJM
Applied Therapeutics Drug Is Denied FDA Approval in Rare Inherited Metabolic Disease - MedCity News
Rare Disease Day 2024: Cystic Fibrosis to Galactosemia, know ways to manage rare diseases in newborns - India TV News
Applied Therapeutics Reports AT-007 Single-Ascending Dose - GlobeNewswire
Hypergonadotropic Hypogonadism in Female Patients with Galactosemia - NEJM
An Unexpectedly High Frequency of Hypergalactosemia in an Immigrant Bosnian Population Revealed by Newborn Screening - Nature
Galactosemia screening kit indigenized - IRNA English
Effects of Citrin Deficiency in the Perinatal Period: Feasibility of Newborn Mass Screening for Citrin Deficiency - Nature
Infant undergoes liver transplant at Yashoda Hospitals - Healthcare Radius
Soy-based formula may cause changes in girls’ reproductive system - The Indian Express
Niloufer Hospital in Hyderabad launches newborn screening programme to detect rare genetic conditions - The Hindu
APLT Lead Plaintiff Deadline Approaching - Contact Robbins LLP for Information About the Pending Class Action Against Applied Therapeutics, Inc. - The Malaysian Reserve
Foreign Language Equivalents
Foreign Language Equivalents of 'galactosemia'
Language Equivalent   Language Equivalent
French    Spanish
Misspellings - Typos
,   galactosemai,   galactoseima,   glactosemia,   galacyosemia,   galactosemiaa,   galactoswmia,   galactose,ia,   aglactosemia,   galactossemia,   galcatosemia,   galactosmia,   galactosemua,   falactosemia,   galactoaemia,   galacosemia,   galacttosemia,   gakactosemia,   galactosemmia,   galactsemia,   galacotsemia,   galactisemia,   galactoseia,   gslactosemia,   galctosemia,   gaactosemia,   galavtosemia,   ga;actosemia,   galatcosemia,   galaxtosemia,   galactosmeia,   galactosrmia,   galactosemoa,   galactpsemia,   galactosemis,   galactodemia,   glaactosemia,   galactsoemia,   galatosemia,   galaactosemia,   halactosemia,   galacctosemia,   galactosemiia,   galacrosemia,   galactoemia,   gaalctosemia,   galactoesmia,   galactosema,   galactosemi,   galactosenia,   galsctosemia,   gallactosemia,   galactoseemia,   ggalactosemia,   alactosemia,   galactoosemia,   gaalactosemia
Words Starting with Letter - 'A'
a a battery a billion
a bit a bit much a capella singing
a cappella singing a couple of a few
a fortiori a good deal a great deal
a horizon a hundred a hundred and one
a hundred thousand a hundred times a kempis
a la carte a la mode a level
a little a lot a million
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