Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Journal of Inherited Metabolic Disease

Volumn 38, Issue 5, 2015, Pages 905-914

  Huemer, Martina ^a,b,c   Karall, Daniela ^d   Schossig, Anna ^d   Abdenur, Jose E ^e,f   Al Jasmi, Fatma ^g   Biagosch, Caroline ^h,i   Distelmaier, Felix ^j   Freisinger, Peter ^k   Graham, Brett H ^l   Haack, Tobias B ^h,i   Hauser, Natalie ^m   Hertecant, Jozef ⁿ   Ebrahimi Fakhari, Darius ^o   Konstantopoulou, Vassiliki ^p   Leydiker, Karen ^e   Lourenco, Charles M ^q   Scholl Bürgi, Sabine ^d   Wilichowski, Ekkehard ^r   Wolf, Nicole I ^s   Wortmann, Saskia B ^t   Taylor, Robert W ^u   Mayr, Johannes A ^v   Bonnen, Penelope E ^l   Sperl, Wolfgang ^v   Prokisch, Holger ^h,i   McFarland, Robert ^u   more..

^a Landeskrankenhaus Bregenz ^*  (Austria)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c UNIVERSITY OF ZURICH   (Switzerland)

^d INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^e CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^h TECHNICAL UNIVERSITY OF MUNICH   (Germany)

ⁱ INSTITUTE OF EPIDEMIOLOGY   (Germany)

^j UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^k Children's Hospital   (Germany)

^l BAYLOR COLLEGE OF MEDICINE   (United States)

^m Children's Hospital of Central California   (United States)

ⁿ TAWAM HOSPITAL   (United Arab Emirates)

^o UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^p MEDICAL UNIVERSITY OF VIENNA   (Austria)

^q UNIVERSITY OF SÃO PAULO   (Brazil)

^r UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^s VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^t RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^u NEWCASTLE UNIVERSITY   (United Kingdom)

^v PARACELSUS MEDICAL UNIVERSITY   (Austria)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; BEZAFIBRATE; BICARBONATE; BIOTIN; CARNITINE; CITRATE SODIUM; CREATINE KINASE; FBXL4 PROTEIN; FOLIC ACID; GLUCOSE; GRANULOCYTE COLONY STIMULATING FACTOR; LACTIC ACID; MITOCHONDRIAL DNA; PROTEIN; RIBOFLAVIN; THIAMINE; UBIDECARENONE; UNCLASSIFIED DRUG; VITAMIN D; F BOX PROTEIN; FBXL4 PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BIRTH WEIGHT; BODY DYSMORPHIC DISORDER; BRAIN ATROPHY; BRAIN CYST; BRAIN HEMORRHAGE; CEREBELLUM HYPOPLASIA; CHILD; CLINICAL ARTICLE; CONGENITAL CATARACT; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DIET SUPPLEMENTATION; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; FACIES; FAILURE TO THRIVE; FEEDING DIFFICULTY; FEMALE; FOLLOW UP; GASTROINTESTINAL HEMORRHAGE; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; GLUCOSE BLOOD LEVEL; HEAD CIRCUMFERENCE; HEARING IMPAIRMENT; HEART LEFT VENTRICLE HYPERTROPHY; HEART VENTRICLE SEPTUM DEFECT; HEMIPARESIS; HUMAN; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; LIPID DIET; LOSS OF FUNCTION MUTATION; MALE; METABOLIC ACIDOSIS; MISSENSE MUTATION; MUSCLE HYPOTONIA; NEUROIMAGING; NEUTROPENIA; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; OUTCOME ASSESSMENT; PERCEPTION DEAFNESS; PROTEIN PROTEIN INTERACTION; PROTEIN RESTRICTION; PSYCHOMOTOR RETARDATION; QUALITY OF LIFE; RETROSPECTIVE STUDY; SEIZURE; VENTRICULAR NONCOMPACTION; VISUAL IMPAIRMENT; WOUND HEALING; ACIDOSIS, LACTIC; COMPLICATION; CONGENITAL; FACE ASYMMETRY; FAMILY; GENETIC ASSOCIATION STUDY; GENETICS; INFANT; MITOCHONDRIAL DISEASES; MORTALITY; MUTATION; NEWBORN; PATHOLOGY; PRESCHOOL CHILD; PROGNOSIS;

ACIDOSIS, LACTIC; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; F-BOX PROTEINS; FACIAL ASYMMETRY; FAMILY; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MITOCHONDRIAL DISEASES; MUSCLE HYPOTONIA; MUTATION; NEUROIMAGING; PROGNOSIS; RETROSPECTIVE STUDIES; UBIQUITIN-PROTEIN LIGASES;

EID: 84940379465     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-015-9836-6     Document Type: Article

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