| P50 | author | Gerardo Atienza | Q68042844 |
| | Lucinda Paz-Valiñas | Q73393209 |
| P2093 | author name string | M López-García | |
| | L Varela-Lema | |
| | R Vizoso Villares | |
| | R Zubizarreta-Alberdi | |
| P2860 | cites work | Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany | Q21202867 |
| | A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS | Q28191062 |
| | Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene. | Q30370825 |
| | Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia. | Q30469080 |
| | Newborn screening for galactosemia: a review of 5 years of data and audit of a revised reporting approach | Q33523958 |
| | Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene | Q33688845 |
| | Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers. | Q33870264 |
| | Quantitative Beutler test for newborn mass screening of galactosemia using a fluorometric microplate reader. | Q33904468 |
| | Living with classical galactosemia: health-related quality of life consequences. | Q34317984 |
| | Literature review and outcome of classic galactosemia diagnosed in the neonatal period | Q34387647 |
| | A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia | Q34421207 |
| | Long-term speech and language developmental issues among children with Duarte galactosemia | Q35012266 |
| | Recommendations for the management of galactosaemia. UK Galactosaemia Steering Group | Q35261845 |
| | High tolerance for oral galactose in classical galactosaemia: dietary implications. | Q35277656 |
| | Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion | Q36527832 |
| | The adult galactosemic phenotype | Q36810971 |
| | Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years | Q37108749 |
| | Motor and speech disorders in classic galactosemia | Q37127640 |
| | Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes | Q37174043 |
| | Ophthalmic findings in classical galactosaemia--prospective study | Q37300053 |
| | Diet and visually significant cataracts in galactosaemia: is regular follow up necessary? | Q37691310 |
| | Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment. | Q38032596 |
| | Galactosemia, a single gene disorder with epigenetic consequences | Q38348448 |
| | Integration of new genetic diseases into statewide newborn screening: New England experience | Q40534152 |
| | Molecular determination of X inactivation pattern correlates with phenotype in women with a structurally abnormal X chromosome | Q40703396 |
| | Long-term outcome in 134 patients with galactosaemia | Q41930006 |
| | Galactosemia screening with low false-positive recall rate: the Swedish experience | Q42367793 |
| | Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90. | Q42584354 |
| | Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test | Q43937312 |
| | Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening. | Q44528675 |
| | Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary | Q44705252 |
| | Verbal dyspraxia in treated galactosemia | Q44861121 |
| | Bone metabolism in galactosemia. | Q45082933 |
| | Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients | Q45802827 |
| | Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening | Q46050018 |
| | Outcomes of siblings with classical galactosemia | Q46139681 |
| | Large-scale molecular screening for galactosemia alleles in a pan-ethnic population | Q46500501 |
| | Living situation, occupation and health-related quality of life in adult patients with classic galactosemia | Q46553655 |
| | Expand newborn screening using tandem mass spectrometry: two years' experience in Nuevo León, Mexico | Q46564403 |
| | Effect of hypogonadism and deficient calcium intake on bone density in patients with galactosemia | Q46850792 |
| | Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations | Q46858660 |
| | Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R). | Q47687688 |
| | The neuropsychological profile of galactosaemia | Q48137823 |
| | Movement disorders in adult patients with classical galactosemia | Q48167216 |
| | Cognitive functioning, neurologic status and brain imaging in classical galactosemia | Q52055291 |
| | Outcomes analysis of verbal dyspraxia in classic galactosemia. | Q52134303 |
| | Long‐term prognosis in galactosaemia: Results of a survey of 350 cases | Q52243798 |
| | Mutational spectrum of classical galactosaemia in Spain and Portugal. | Q52805251 |
| | Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot study. | Q53475810 |
| | Literature Review and Outcome of Classic Galactosemia Diagnosed in the Neonatal Period | Q54119680 |
| | Screening for galactosaemia in Greece | Q64050200 |
| | Selective screening for neonatal galactosemia: an alternative approach. | Q64941800 |
| | Biochemical and molecular studies of 132 patients with galactosemia. | Q65000102 |
| | Galactosaemia--a controversial disorder. Screening & outcome. Ireland 1972-1992 | Q71946405 |
| | Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis | Q73509778 |
| | Molecular characterization of Polish patients with classical galactosaemia | Q77979968 |
| | Growth in treated classical galactosemia patients | Q79196870 |
| | Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme | Q82035881 |
| | Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia | Q83468669 |
| P433 | issue | 5 | |
| P304 | page(s) | 633-649 | |
| P577 | publication date | 2016-04-26 | |
| P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
| P1476 | title | Appropriateness of newborn screening for classic galactosaemia: a systematic review | |
| P478 | volume | 39 | |