The adult galactosemic phenotype

Journal of Inherited Metabolic Disease

Volumn 35, Issue 2, 2012, Pages 279-286

  Waisbren, Susan E ^a   Potter, Nancy L ^b   Gordon, Catherine M ^a   Green, Robert C ^c   Greenstein, Patricia ^d   Gubbels, Cynthia S ^e   Rubio Gozalbo, Estela ^e   Schomer, Donald ^d   Welt, Corrine ^f   Anastasoaie, Vera ^a   D'Anna, Kali ^a   Gentile, Jennifer ^a   Guo, Chao Yu ^a   Hecht, Leah ^a   Jackson, Roberta ^g   Jansma, Bernadette M ^h   Li, Yijun ^a   Lip, Va ^a   Miller, David T ^a   Murray, Michael ⁱ   Power, Leslie ^b   Quinn, Nicolle ^a   Rohr, Frances ^a   Shen, Yiping ^a   Skinder Meredith, Amy ^b   Timmers, Inge ^e   Tunick, Rachel ^a   Wessel, Ann ^a   Wu, Bai Lin ^a   Levy, Harvey ^a   Elsas, Louis ^j   Berry, Gerard T ^a   more..

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b WASHINGTON STATE UNIVERSITY   (United States)

^c BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^e MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^f MASSACHUSETTS GENERAL HOSPITAL   (United States)

^g EASTERN WASHINGTON UNIVERSITY   (United States)

^h MAASTRICHT UNIVERSITY   (Netherlands)

ⁱ BRIGHAM AND WOMEN S HOSPITAL   (United States)

^j UNIVERSITY OF MIAMI   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANTIDEPRESSANT AGENT; CALCIUM; ESTRADIOL; FOLLITROPIN; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; MUELLERIAN INHIBITING FACTOR; VITAMIN D;

ADULT; AGE; ANXIETY; APRAXIA OF SPEECH; ARTICLE; ATAXIA; BONE DENSITY; CALCIUM INTAKE; CATARACT; CLINICAL ARTICLE; CLINICAL FEATURE; DEPRESSION; DIET THERAPY; DISEASE ASSOCIATION; DYSARTHRIA; ELECTROCONVULSIVE THERAPY; ENZYME ACTIVITY; FEMALE; GALACTOSEMIA; GENE DELETION; GENOTYPE; HUMAN; INTELLIGENCE QUOTIENT; MALE; PHENOTYPE; PREDICTIVE VALUE; PREMATURE OVARIAN FAILURE; QUALITY OF LIFE; SPEECH DISORDER; TREMOR; VITAMIN INTAKE;

ADOLESCENT; ADULT; DISEASE PROGRESSION; FEMALE; GALACTOSEMIAS; GENOTYPE; HUMANS; INFANT, NEWBORN; MALE; MIDDLE AGED; NEONATAL SCREENING; NEURODEGENERATIVE DISEASES; PHENOTYPE; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; YOUNG ADULT;

EID: 84860187392     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9372-y     Document Type: Article

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