Results 101 to 110 of about 870 (139)

Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta. [PDF]

Mol Genet Metab Rep
Almenabawy N, Bahl S, Ostlund AL, Ghai-Jain S, Sosova I, Chan A, Mercimek-Andrews S.   +6 more
europepmc   +1 more source

Current Status of Newborn Screening in Southeastern and Central Europe. [PDF]

Int J Neonatal Screen
Požun N, Perko D, Anastasovska V, Barić I, Baša M, Battelino T, Bilandžija I, Brincat I, Brkušanin M, Djordević M, Dimova I, Drole Torkar A, Fumić K, Gladun S, Girginoudis P, Szatmári I, Kavečan I, Katanić J, Kotori V, Marić N, Martić J, Manđarelo O, Milenković T, Mlinarič M, Moldovanu F, Nanu M, Monostori P, Modeva I, Opančina B, Platis D, Raičević M, Remec ŽI, Repič Lampret B, Savov A, Skouma A, Sovtić A, Stoeva I, Toromanović A, Trampuž D, Usurelu N, Višekruna J, Vogazianos M, Zeyda M, Žerjav Tanšek M, Grošelj U.   +44 more
europepmc   +1 more source

Odimet^®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism-An Assessment of Its Effectiveness during the COVID Pandemic. [PDF]

Nutrients
Sánchez-Pintos P, Camba-Garea MJ, López-Pardo BM, Couce ML.   +3 more
europepmc   +1 more source

Classical galactosemia revisited

, 2004
openaire   +2 more sources

Clinical and Developmental Outcomes After 50 Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland. [PDF]

JIMD Rep
Pereira D, Loftus E, Thompson CE, Boyle F, McNulty J, Boruah R, Crushell E, Howard C, Hughes J, Monavari AA, Treacy EP, Beegan A, Jordan N, Rogers Y, Collins A, Brady JJ, Elsammak M, Mayne PD, Knerr I.   +18 more
europepmc   +1 more source

Newborn Screening in Developing Countries: The Need of the Hour. [PDF]

Cureus
Gaikwad S, Ganvir S, Uke P.
europepmc   +1 more source

Case-Based Learning in Clinical Biochemistry: Performance and Perception of MBBS Phase-I Students in Chhindwara Institute of Medical Sciences, Chhindwara, Madhya Pradesh, India. [PDF]

Cureus
Raghuwanshi K, Nagwanshi J, Kumar Jain B, Manore S, Petkar S, Gandhe M.   +5 more
europepmc   +1 more source

Changes in Child Behaviour Following a Brief Parenting Intervention (Triple P) for Families of Children with Phenylketonuria (PKU): A Case Series. [PDF]

Behav Modif
Kirby G, Morawska A, Mitchell AE, McGill J, Coman D, Inwood A.   +5 more
europepmc   +1 more source

Metabolic Liver Diseases Presenting as Pediatric Onset Hypoglycemia: A Hepatologist's Primer. [PDF]

J Clin Exp Hepatol
Verma S, Sood V, Lal BB, Khanna R, Alam S.   +4 more
europepmc   +1 more source

Identification of novel mutations in classical galactosemia [PDF]

Human Mutation, 2005
Classical galactosemia is an autosomal recessive disorder of galactose metabolism due to galactose-1-phosphate uridyltransferase (GALT) deficiency. Treatment through restriction of dietary galactose intake is lifesaving, but, in spite of this diet, most patients develop abnormalities.
Annet Bosch, Hans Waterham, Ronald Wanders   +2 more
exaly   +3 more sources