Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8

Brain and Development

Volumn 36, Issue 7, 2014, Pages 630-633

  Kato, Hidekazu ^a   Miyake, Fuyu ^a   Shimbo, Hiroko ^a   Ohya, Makoto ^b   Sugawara, Hidenori ^b   Aida, Noriko ^a   Anzai, Rie ^a   Takagi, Mariko ^a   Okuda, Mitsuko ^a   Takano, Kyoko ^a   Wada, Takahito ^a   Iai, Mizue ^a   Yamashita, Sumimasa ^a   Osaka, Hitoshi ^a  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^b Odawara City Hospital   (Japan)

Author keywords

Creatine deficiency syndrome; Intellectual disability; Mental retardation; Urine screening; X linked

Indexed keywords

COMPLEMENTARY DNA; CREATINE; GENOMIC DNA; NERVE PROTEIN; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORTER; SLC6A8 PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CHILD; CREATINE TRANSPORTER DEFICIENCY; DEVELOPMENTAL DISORDER; FEBRILE CONVULSION; GENETIC ANALYSIS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MICROCEPHALY; MISSENSE MUTATION; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; SPEECH DELAY; URINALYSIS; X CHROMOSOME LINKED DISORDER; ASIAN CONTINENTAL ANCESTRY GROUP; BRAIN DISEASES, METABOLIC, INBORN; COMPLICATION; DEFICIENCY; GENETICS; MENTAL RETARDATION, X-LINKED; PEDIGREE; URINE;

ASIAN CONTINENTAL ANCESTRY GROUP; BRAIN DISEASES, METABOLIC, INBORN; CHILD; CREATINE; DEVELOPMENTAL DISABILITIES; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS;

EID: 84904745582     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2013.08.004     Document Type: Article

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