International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

Journal of Inherited Metabolic Disease

Volumn 40, Issue 2, 2017, Pages 171-176

  Welling, Lindsey ^a   Bernstein, Laurie E ^b   Berry, Gerard T ^c,d   Burlina, Alberto B ^e   Eyskens, François ^f   Gautschi, Matthias ^g   Grünewald, Stephanie ^h   Gubbels, Cynthia S ^c,d   Knerr, Ina ⁱ   Labrune, Philippe ^j   van der Lee, Johanna H ^a   MacDonald, Anita ^k   Murphy, Elaine ^l   Portnoi, Pat A ^m   Õunap, Katrin ^n,o   Potter, Nancy L ^p   Rubio Gozalbo, M Estela ^q   Spencer, Jessica B ^r   Timmers, Inge ^s   Treacy, Eileen P ⁱ   Van Calcar, Sandra C ^t   Waisbren, Susan E ^c   Bosch, Annet M ^a   more..

^a EMMA CHILDREN S HOSPITAL   (Netherlands)

^b UNIVERSITY OF COLORADO   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^e UNIVERSITY OF PADOVA   (Italy)

^f ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^g UNIVERSITY OF BERN   (Switzerland)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁱ CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^j HÔPITAL ANTOINE BÉCLÈRE   (France)

^k BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^l NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^m Galactosaemia Support Group UK   (United Kingdom)

ⁿ UNIVERSITY OF TARTU   (Estonia)

^o TARTU UNIVERSITY HOSPITAL   (Estonia)

^p WASHINGTON STATE UNIVERSITY   (United States)

^q MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^r EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^s MAASTRICHT UNIVERSITY   (Netherlands)

^t OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; GALACTITOL; GALACTOSE; LACTOSE; SODIUM; VITAMIN D;

ARTICLE; BONE DENSITY; BONE TURNOVER; CATARACT; CLINICAL ASSESSMENT; COGNITIVE DEVELOPMENT; DAIRY PRODUCT; DIET THERAPY; ENDOCRINOLOGY; ENZYME ACTIVITY; ERYTHROCYTE; EVIDENCE BASED PRACTICE; FERTILITY; FOLLOW UP; GALACTOSEMIA; HUMAN; INTESTINE LYMPHATIC TISSUE; NEUROLOGICAL COMPLICATION; NUTRITIONAL ASSESSMENT; PATIENT CARE; PRACTICE GUIDELINE; PSYCHOSOCIAL DEVELOPMENT; SPEECH AND LANGUAGE; EVIDENCE BASED MEDICINE; INBORN ERROR OF METABOLISM; METABOLISM; PROCEDURES;

EVIDENCE-BASED MEDICINE; FOLLOW-UP STUDIES; GALACTOSE; GALACTOSEMIAS; HUMANS; METABOLISM, INBORN ERRORS;

EID: 84995783191     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-016-9990-5     Document Type: Article

References (1)

1. Calderon FRO, Nelson L, Dobrowolski P et al (2007) Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene. J Inherit Metab Dis 30:818. doi:10.1007/s10545-007-0461-x