ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Journal of Inherited Metabolic Disease

Volumn 39, Issue 5, 2016, Pages 713-723

  Morava, Eva ^a,b   Tiemes, Vera ^c   Thiel, Christian ^d   Seta, Nathalie ^e   de Lonlay, Pascale ^f   de Klerk, Hans ^g   Mulder, Margot ^h   Rubio Gozalbo, Estela ⁱ   Visser, Gepke ^j   van Hasselt, Peter ^j   Horovitz, Dafne D G ^k   de Souza, Carolina Fischinger Moura ^k   Schwartz, Ida V D ^k   Green, Andrew ^l   Al Owain, Mohammed ^m   Uziel, Graciella ⁿ   Sigaudy, Sabine ^o   Chabrol, Brigitte ^o   van Spronsen, Franc Jan ^p   Steinert, Martin ^q   Komini, Eleni ^r   Wurm, Donald ^s   Bevot, Andrea ^t   Ayadi, Addelkarim ^e   Huijben, Karin ^c   Dercksen, Marli ^u   Witters, Peter ^a   Jaeken, Jaak ^a   Matthijs, Gert ^v   Lefeber, Dirk J ^c   Wevers, Ron A ^c   more..

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e BICHAT HOSPITAL   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g ERASMUS MEDICAL CENTER   (Netherlands)

^h VU UNIVERSITY AMSTERDAM   (Netherlands)

ⁱ MAASTRICHT UNIVERSITY   (Netherlands)

^j UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^k Service for Medical Genetics   (Brazil)

^l National Centre for Medical Genetics   (Ireland)

^m KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

ⁿ UNIVERSITY OF MILAN   (Italy)

^o TIMONE HOSPITAL   (France)

^p UNIVERSITY OF GRONINGEN   (Netherlands)

^q Klinik für Kinder und Jugendmedizin   (Germany)

^r Schwarzwald Baar Klinikum   (Germany)

^s KLINIKUM SAARBRÜCKEN   (Germany)

^t UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^u NORTH WEST UNIVERSITY   (South Africa)

^v UNIVERSITY OF LEUVEN   (Belgium)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINOTRANSFERASE; ANTITHROMBIN III; BLOOD CLOTTING FACTOR 9; CORTICOTROPIN; GLUCOSE; HYDROCORTISONE; IMMUNOGLOBULIN G; LAMOTRIGINE; MELATONIN; OCTREOTIDE; THYROID HORMONE; VALPROIC ACID; VIGABATRIN; ALG6 PROTEIN, HUMAN; GLUCOSYLTRANSFERASE; MEMBRANE PROTEIN;

ADOLESCENT; ADULT; AGGRESSION; ALLELE; ALPHA 1,3 GLUCOSYLTRANSFERASE CONGENITAL DISORDER OF GLYCOSYLATION; AMINOTRANSFERASE BLOOD LEVEL; ANEMIA; ARACHNODACTYLY; ARTICLE; ATAXIA; AUTISM; BEHAVIOR CHANGE; BEHAVIOR DISORDER; BLEEDING TIME; BLOOD CLOTTING DISORDER; BRACHYDACTYLY; BRAIN ATROPHY; BRAIN MALFORMATION; CALORIC INTAKE; CEREBELLUM ATROPHY; CHILD; CLINICAL ARTICLE; COMMUNICATION DISORDER; COMPULSION; CONGENITAL DISORDER OF GLYCOSYLATION; CONGESTIVE CARDIOMYOPATHY; CORPUS CALLOSUM AGENESIS; DANDY WALKER SYNDROME; DEPRESSION; DEVELOPMENTAL DISORDER; EPILEPSY; EPILEPTIC STATE; FACE DYSMORPHIA; FAILURE TO THRIVE; FOCAL EPILEPSY; GENETIC BACKGROUND; GENOTYPE PHENOTYPE CORRELATION; GLUCOSE BLOOD LEVEL; HEMOSTASIS; HEPATOSPLENOMEGALY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPERINSULINISM; HYPERTELORISM; HYPOALBUMINEMIA; HYPOGLYCEMIA; IMMUNOGLOBULIN BLOOD LEVEL; INFANT; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; INTRACTABLE EPILEPSY; KETOGENIC DIET; LIMB MALFORMATION; MICROCEPHALY; MISSENSE MUTATION; MOOD CHANGE; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYOCLONUS SEIZURE; NEUROIMAGING; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PHENOTYPE; PRESCHOOL CHILD; PROTEIN LOSING GASTROENTEROPATHY; RECURRENT DISEASE; RETROSPECTIVE STUDY; SCHOOL CHILD; SCOLIOSIS; SEPSIS; SKIN BRUISING; SLEEP DISORDER; SOCIAL INTERACTION; SPEECH DELAY; STRABISMUS; STRABISMUS SURGERY; THYROID HORMONE BLOOD LEVEL; TONIC CLONIC SEIZURE; TOOTH EXTRACTION; VISUAL IMPAIRMENT; YOUNG ADULT; FEMALE; GENETIC ASSOCIATION STUDY; GENETICS; GLYCOSYLATION; MALE; MENTAL DISEASE; PATHOLOGY; PROCEDURES; SEIZURE;

ADOLESCENT; ADULT; ATAXIA; CHILD; CHILD, PRESCHOOL; CONGENITAL DISORDERS OF GLYCOSYLATION; EPILEPSY; FEMALE; GENETIC ASSOCIATION STUDIES; GLUCOSYLTRANSFERASES; GLYCOSYLATION; HUMANS; INFANT; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; MALE; MEMBRANE PROTEINS; MENTAL DISORDERS; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; PHENOTYPE; RETROSPECTIVE STUDIES; SEIZURES; YOUNG ADULT;

EID: 84973630047     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-016-9945-x     Document Type: Article

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