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Neonatal Network, 2021
Congenital hypothyroidism (CH) is a disorder of thyroid hormone deficiency which develops secondary to incomplete thyroid development or inadequate thyroid hormone production. State-mandated newborn screening throughout the United States has increased the detection rate of CH, allowing for early intervention.
Jacqueline Brady +3 more
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Congenital hypothyroidism (CH) is a disorder of thyroid hormone deficiency which develops secondary to incomplete thyroid development or inadequate thyroid hormone production. State-mandated newborn screening throughout the United States has increased the detection rate of CH, allowing for early intervention.
Jacqueline Brady +3 more
openaire +2 more sources
Current Neurology and Neuroscience Reports, 2004
The congenital myopathies encompass a group of neuromuscular disorders with characteristic morphologic abnormalities in skeletal muscle, including nemaline myopathy, central core disease, multi-minicore disease, and myotubular myopathy. Giant steps have been made in our understanding of the molecular bases of these disorders, all of which show ...
BRUNO C, MINETTI, CARLO
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The congenital myopathies encompass a group of neuromuscular disorders with characteristic morphologic abnormalities in skeletal muscle, including nemaline myopathy, central core disease, multi-minicore disease, and myotubular myopathy. Giant steps have been made in our understanding of the molecular bases of these disorders, all of which show ...
BRUNO C, MINETTI, CARLO
openaire +3 more sources
Acta Paediatrica, 1971
SummaryA report is submitted of a case of leukaemia of myeloid type in a newborn boy who died on the 7th day of life, despite anti‐leukaemic therapy. The available reports on congenital leukaemia and on children born of mothers with leukaemia in pregnancy do not give any clue to the aetiology.
J, Haar, B, Halveg
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SummaryA report is submitted of a case of leukaemia of myeloid type in a newborn boy who died on the 7th day of life, despite anti‐leukaemic therapy. The available reports on congenital leukaemia and on children born of mothers with leukaemia in pregnancy do not give any clue to the aetiology.
J, Haar, B, Halveg
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Pediatric Clinics of North America, 1953
TWO years ago I had the privilege of presenting to this Academy our concepts of the pathology, the related dysfunction of the colon, and the surgical treatment of congenital megacolon. I should now like to relate our interim clinical experience with these patients and particularly to stress diagnostic criteria of this disease.
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TWO years ago I had the privilege of presenting to this Academy our concepts of the pathology, the related dysfunction of the colon, and the surgical treatment of congenital megacolon. I should now like to relate our interim clinical experience with these patients and particularly to stress diagnostic criteria of this disease.
openaire +4 more sources
Neurologic Clinics, 1988
AbstractSeveral dozen congenital myopathies are defined by clinical and morphological criteria. The application of the current generation of scientific techniques including immunohistochemistry and molecular genetics has resulted in the expansion of our knowledge and understanding of the well‐established conditions including central core myopathy and ...
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AbstractSeveral dozen congenital myopathies are defined by clinical and morphological criteria. The application of the current generation of scientific techniques including immunohistochemistry and molecular genetics has resulted in the expansion of our knowledge and understanding of the well‐established conditions including central core myopathy and ...
openaire +3 more sources
NeoReviews, 2020
Neuroblastoma is the most common extracranial solid tumor diagnosed during childhood and gives rise to various heterogeneous tumors along the sympathoadrenal axis. Congenital neuroblastoma accounts for 5% of total neuroblastoma cases diagnosed annually, with the majority of cases diagnosed in the first month after birth.
Elena, Minakova, Jordan, Lang
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Neuroblastoma is the most common extracranial solid tumor diagnosed during childhood and gives rise to various heterogeneous tumors along the sympathoadrenal axis. Congenital neuroblastoma accounts for 5% of total neuroblastoma cases diagnosed annually, with the majority of cases diagnosed in the first month after birth.
Elena, Minakova, Jordan, Lang
openaire +2 more sources