Monocarboxylate transporter 1 deficiency and ketone utilization

New England Journal of Medicine

Volumn 371, Issue 20, 2014, Pages 1900-1907

  Van Hasselt, Peter M ^a   Ferdinandusse, Sacha ^c   Monroe, Glen R ^a   Ruiter, Jos P N ^c   Turkenburg, Marjolein ^c   Geerlings, Maartje J ^a   Duran, Karen ^a   Harakalova, Magdalena ^a   Van Der Zwaag, Bert ^a   Monavari, Ardeshir A ^f   Okur, Ilyas ^g   Sharrard, Mark J ^h   Cleary, Maureen ⁱ   O'Connell, Nuala ^j   Walker, Valerie ^k   Gozalbo, Estela Rubio ^d   De Vries, Maaike C ^e   Visser, Gepke ^a   Houwen, Roderick H J ^b   Van Der Smagt, Jasper J ^a   Verhoeven, Nanda M ^a   Wanders, Ronald J A ^c   Van Haaften, Gijs ^a   more..

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b Division of Pediatrics Department of Pediatric Gastroenterology   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^g GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

^h SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

ⁱ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^j Great Ormond Street Hospital NHS Foundation Trust ^*  (United Kingdom)

^k SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BICARBONATE; GLUCOSE; LACTIC ACID; MONOCARBOXYLATE TRANSPORTER 1; MONOCARBOXYLATE TRANSPORTER 2; MONOCARBOXYLATE TRANSPORTER 3; MONOCARBOXYLATE TRANSPORTER 4; COTRANSPORTER; KETONE; KETONE BODY; MONOCARBOXYLATE TRANSPORT PROTEIN 1; MONOCARBOXYLATE TRANSPORTER;

ADOLESCENT; ADULT; AMINO ACID TRANSPORT; ARTICLE; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; DNA DETERMINATION; ERYTHROCYTE; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; INFANT; KETOACIDOSIS; MAJOR CLINICAL STUDY; MALE; MCT2 GENE; MCT3 GENE; MCT4 GENE; METABOLIC ACIDOSIS; MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY; PROTEIN BLOOD LEVEL; PROTEIN DEFICIENCY; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; YOUNG ADULT; DEFICIENCY; FRAMESHIFT MUTATION; GENETICS; GENOTYPE; METABOLISM; MUTATION; PHYSIOLOGY; PRESCHOOL CHILD; TRANSPORT AT THE CELLULAR LEVEL;

BIOLOGICAL TRANSPORT; CHILD; CHILD, PRESCHOOL; FRAMESHIFT MUTATION; GENOTYPE; HUMANS; INFANT; KETONE BODIES; KETONES; KETOSIS; MONOCARBOXYLIC ACID TRANSPORTERS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SYMPORTERS;

EID: 84910107272     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1407778     Document Type: Article

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