Per ulteriori informazioni selezionare i riferimenti di interesse.
Extraneurologic symptoms as presenting signs of Sanfilippo disease
PEDIATRIC NEUROLOGY
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG
GLYCOBIOLOGY
Escobedo's 'Missa Philippus Rex Hispanie': A Spanish descendant of Josquin's 'Hercules' mass
EARLY MUSIC
Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency
JOURNAL OF INHERITED METABOLIC DISEASE
Haemostatic abnormalities and lupus anticoagulant activity in patients with Gaucher disease type I
JOURNAL OF INHERITED METABOLIC DISEASE
Carbohydrate-deficient glycoprotein syndromes: The Italian experience
JOURNAL OF INHERITED METABOLIC DISEASE
Supplemental therapeutic oxygen for prethreshold retinopathy of prematurity (STOP-ROP), a randomized, controlled trial. I: Primary outcomes
PEDIATRICS
beta-hexosaminidase, alpha-D-mannosidase, and beta-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I
CLINICA CHIMICA ACTA
Extraordinary bone involvement in a Gaucher disease type I patient
BRITISH JOURNAL OF HAEMATOLOGY
Peripheral lymphocyte subsets and other immune aspects in Rett syndrome
PEDIATRIC NEUROLOGY
Rett syndrome: Photographic evidence of rapid regression
JOURNAL OF CHILD NEUROLOGY
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)
BRAIN & DEVELOPMENT
Clinical and neuroradiological follow-up in mucopolysaccharidosis type III(Sanfilippo syndrome)
NEUROPEDIATRICS
BRIEF REPORT - AUTISTIC BEHAVIORS AMONG CHILDREN WITH FRAGILE-X OR RETT-SYNDROME - IMPLICATIONS FOR THE CLASSIFICATION OF PERVASIVE DEVELOPMENTAL DISORDER
Journal of autism and developmental disorders
Short stature, brachydactyly, nail dysplasia, and mental retardation: Further observation of the Tonoki syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS
LYSOSOMAL-ENZYME ACTIVITIES IN SERUM AND LEUKOCYTES FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE IA (PHOSPHOMANNOMUTASE DEFICIENCY)
Journal of inherited metabolic disease
RETT-SYNDROME - IMMUNOLOGICAL STUDIES
European child & adolescent psychiatry
2 NEW MILD HOMOZYGOUS MUTATIONS IN GAUCHER-DISEASE PATIENTS - CLINICAL SIGNS AND BIOCHEMICAL ANALYSES
American journal of medical genetics
PHOSPHOMANNOMUTASE DEFICIENCY IS THE MAIN CAUSE OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH TYPE-I ISOELECTROFOCUSING PATTERN OF SERUM SIALOTRANSFERRINS
Journal of inherited metabolic disease
NEGATIVE LOW EXPRESSION OF THE MET/HEPATOCYTE GROWTH-FACTOR RECEPTOR IDENTIFIES PAPILLARY THYROID CARCINOMAS WITH HIGH-RISK OF DISTANT METASTASES/
The Journal of clinical endocrinology and metabolism
IN-SITU EVIDENCE OF NEOPLASTIC CELL PHAGOCYTOSIS BY MACROPHAGES IN PAPILLARY THYROID-CANCER
The Journal of clinical endocrinology and metabolism
AUTISM AND CELIAC-DISEASE - FAILURE TO VALIDATE THE HYPOTHESIS THAT ALINK MIGHT EXIST
Biological psychiatry
FOLLOW-UP OF EXTREMELY LOW-BIRTH-WEIGHT INFANTS (ELBW-LESS-THAN-1000 GM) - RELATION OF HEAD CIRCUMFERENCE TO DEVELOPMENTAL OUTCOME
Journal of investigative medicine
EVIDENCE FOR GENETIC-HETEROGENEITY IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I (CDG1)
Genomics
HEMOSTATIC STUDIES IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I
Thrombosis and haemostasis
OLIVOPONTOCEREBELLAR ATROPHY LEADING TO RECOGNITION OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I
Journal of neurology
CLINICAL AND NEURORADIOLOGICAL FINDINGS IN CLASSIC INFANTILE AND LATE-ONSET GLOBOID-CELL LEUKODYSTROPHY (KRABBE DISEASE)
American journal of medical genetics
FOLLOW-UP OF EXTREMELY LOW-BIRTH-WEIGHT INFANTS (ELBW LESS-THAN-1000 GM) - RELATION OF HEAD CIRCUMFERENCE TO DEVELOPMENTAL OUTCOME
Pediatric research
CHEMICAL RESUSCITATION (CR) IN THE DELIVERY ROOM AND THE RISK FOR INTRACRANIAL HEMORRHAGE (ICH)
Pediatric research
AN INNOVATIVE MATHEMATICAL-MODEL OF RF-INDUCED QUIESCENT POINT SHIFT IN A BJT
IEEE transactions on electromagnetic compatibility
MULTIPLE-SCLEROSIS WITH ONSET AT 35 MONTHS OF AGE
Clinical pediatrics
DUPLICATION OF DYSTROPHIN GENE AND DISSIMILAR CLINICAL PHENOTYPE IN THE SAME FAMILY
Neuromuscular disorders
CONGENITAL MUSCULAR-DYSTROPHIES - CLINICAL REVIEW AND PROPOSED CLASSIFICATION
Pediatric neurology
THE MANAGEMENT OF THYROID-NODULES
Journal of endocrinological investigation
EARLY OCCURRENCE OF A THYROID-CARCINOMA IN A PATIENT WHO DEVELOPED GRAVES-DISEASE AFTER TREATMENT FOR HODGKINS-DISEASE
Journal of endocrinological investigation
THE SPECTRUM OF BRONCHOPULMONARY DYSPLASIA (BPD) IN THE NICU
Pediatric research
BLOOD-TRANSFUSIONS (TX) EFFECT OF SURFACTANT USE ON LESS-THAN 2000 GRAM INFANTS
Pediatric research
PANCREATITIS AND ORGANIC ACIDEMIAS
The Journal of pediatrics
INTERFAMILIAL AND INTRAFAMILIAL VARIABILITY IN MUCOLIPIDOSIS-II (I-CELL DISEASE)
Clinical genetics
CONGENITAL MUSCULAR-DYSTROPHY - CORRELATION OF MUSCLE BIOPSY AND CLINICAL-FEATURES
Pediatric neurology
DISMATURITY ISLET CELLS SYNDROME - REPORT OF 2 CASES ONSET WITH SEIZURES
Rivista italiana di pediatria
HYPERAMMONIEMIC COMA IN PATIENT AFFECTED BY ORNITHINE-TRANSCARBAMYLASE DEFICIENCY
Rivista italiana di pediatria
A CLINICAL-STUDY OF CHILDHOOD SPINAL MUSCULAR-ATROPHY IN SICILY - A REVIEW OF 75 CASES
Brain & development
LATERAL DERMOID CYST OF THE TONGUE - CASE-REPORT
International journal of pediatric otorhinolaryngology
IMMUNOCYTOCHEMISTRY OF MUSCLE CYTOSKELETAL PROTEINS IN ACID MALTASE DEFICIENCY
Muscle & nerve
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I - OPHTHALMIC ASPECTS IN 4 SICILIAN PATIENTS
British journal of ophthalmology
FARBER-DISEASE WITH PROLONGED SURVIVAL
Journal of inherited metabolic disease
1ST-TRIMESTER PRENATAL-DIAGNOSIS OF CANAVAN DISEASE
Journal of inherited metabolic disease