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Oxidative stress in Portuguese children with Down syndrome.

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BACKGROUND Individuals with Down syndrome have an accelerated process of ageing which is thought to be associated with oxidative stress. OBJECTIVE Since Zn/Cu superoxide dismutase is increased by about 50% in children with Down syndrome, glutathione and other less known antioxidant mechanisms were

Survey of Plant Growth-Promoting Mechanisms in Native Portuguese Chickpea Mesorhizobium Isolates.

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Rhizobia may possess other plant growth-promoting mechanisms besides nitrogen fixation. These mechanisms and the tolerance to different environmental factors, such as metals, may contribute to the use of rhizobia inocula to establish a successful legume-rhizobia symbiosis. Our goal was to

Identification of a novel nonsense mutation (Q24X) in the glucose-6-phosphatase gene of a Portuguese patient with GSD Ia (von Gierke disease).

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Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online.

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Three novel mutations, Q54P, W70X and T1081, were identified in the gene encoding glucose-6-phosphatase in three patients with glycogen storage disease type Ia. Two sibs of Portuguese origin were homozygous for the Q54P mutation whereas the third patient, originating from both France and Lebanon,

Genetic polymorphism of rabbit (Oryctolagus cuniculus) tissue acid phosphatases (ACP2 and ACP3).

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Rabbit (Oryctolagus cuniculus) red cell and tissue acid phosphatases were studied by means of horizontal starch gel electrophoresis and isoelectric focusing followed by enzyme blotting. Red cell acid phosphatase 1 (ACP1) is monomorphic while tissue acid phosphatase 2 (ACP2) is polymorphic in a wild

Expanding the ataxia with oculomotor apraxia type 4 phenotype.

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Ataxia with oculomotor apraxia type 4 (AOA4) is an autosomal recessive (AR) disorder recently delineated in a Portuguese cohort and caused by mutations in the PNKP (polynucleotide kinase 3'-phosphatase) gene.(1) AOA4 is a progressive, complex movement disorder that includes hyperkinetic features,

Symmetrical enchondromatosis of the hands and feet in two sisters.

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We report two Portuguese sisters aged 9 and 12 years with symmetric well-circumscribed radiolucent cystic lesions on the long bone metaphysis of the hands and feet. The eldest also has soft tissue calcifications. They have no dysmorphic features and their growth is normal. Plasma values of

The Njinga of Angola: a serogenetic study.

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The Njinga, a matrilineal kiMbundu-speaking Negro people of northern Angola, inhabited the coast near Luanda during the sixteenth century, and were driven inland by Portuguese expansion subsequently. There is no evidence from the present sterogenetic study that they have received any appreciable

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

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Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically heterogeneous group of disorders. We used homozygosity mapping and exome sequencing to study a cohort of nine Portuguese families who were identified during a nationwide, population-based, systematic survey as

Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease.

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PNKP (polynucleotide kinase 3'-phosphatase, OMIM #605610) product is involved in the repair of strand breaks and base damage in the DNA molecule mainly caused by radical oxygen species. Deleterious variants affecting this gene have been previously associated with microcephaly, epilepsy, and

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.

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The newly recognized ataxia-ocular apraxia 1 (AOA1; MIM 208920) is the most frequent cause of autosomal recessive ataxia in Japan and is second only to Friedreich ataxia in Portugal. It shares several neurological features with ataxia-telangiectasia, including early onset ataxia, oculomotor apraxia

[Clinical study of 105 cases of isolated weight loss in internal medicine].

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We arbitrarily define "isolated weight loss" as the loss of at least 10 p. 100 of body weight over less than one year, without any single cause being disclosed by questioning, physical examination and such paraclinical examinations as blood electrolytes, blood count and differential, routine

Assessment of markers of bone formation under controlled environmental factors and their correlation with serum minerals in adult sheep as a model for orthopaedic research.

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Eighteen healthy skeletally mature (3 years old) ewes, with an average weight of 45 kg, of the Portuguese Churra da Terra Quente breed were used to evaluate the normal values of total and bone-specific isoform of alkaline phosphatase serum activities (ALP and BALP, respectively) and serum

Evaluation of bone turnover markers and serum minerals variations for predicting fracture healing versus non-union processes in adult sheep as a model for orthopedic research.

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Bone turnover markers (BTMs) have been considered as an auxiliary method of following the fracture healing process and for early prediction of impaired bone healing. A better understanding of the potential of BTMs in this application could allow for earlier interventions and improved patient care.

CAT53 and HFE alleles in Alzheimer's disease: a putative protective role of the C282Y HFE mutation.

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Alzheimer's disease (AD) is a complex disorder, resulting from an interaction between environmental and genetic factors. Several studies addressed the association of AD with MHC class-I polymorphisms without definite conclusions. Considering the remarkable linkage disequilibrium at the MHC region,

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