Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary...
... deficiency are described in two Spanish patients with chronic nonspherocytic hemolytic anemia. One patient, with residual GPI ... Anemia, Hemolytic, Congenital Nonspherocytic / genetics* Actions. * Search in PubMed * Search in MeSH ... Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese ... Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous ...
MEDLINE Data Changes 2012: Revised Entry Combinations Table. NLM Technical Bulletin. 2011 Nov-Dec
Genetic history of the Arab world - Wikipedia
Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia]". Harefuah. 126 (12): 699-702, 764, 763 ... Megalo plastic anemia, Parkinsons, Phenylketonuria Primary hyperocaluria Congenital Myasthenia Syndrome Criger- Najjar Type I ... "The prevention of congenital and genetic disorders in the Eastern Mediterranean Region" (PDF). Eastern Mediterranean Health ... A study about sickle cell anemia in Arabs article about Birth defects Glucose phosphate isomerase deficiency responsible for ...
G6pd2 MGI Mouse Gene Detail - MGI:105977 - glucose-6-phosphate dehydrogenase 2
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DeCS
Anemia, Congenital Nonspherocytic Hemolytic Anemia, Hemolytic Congenital, Nonspherocytic Congenital Nonspherocytic Hemolytic ... Anemia, Congenital Nonspherocytic Hemolytic. Anemia, Hemolytic Congenital, Nonspherocytic. Congenital Nonspherocytic Hemolytic ... use ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC to search ANEMIA, CONGENITAL NON-SPHEROCYTIC HEMOLYTIC 1966-67. ... 91(82)68; was see under ANEMIA, HEMOLYTIC, CONGENITAL 1982-90; was heading 1968-81; was ANEMIA, CONGENITAL NONSPHEROCYTIC ...
MeSH Browser
Anemia, Congenital Nonspherocytic Hemolytic Anemia, Hemolytic Congenital, Nonspherocytic Congenital Nonspherocytic Hemolytic ... use ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC to search ANEMIA, CONGENITAL NON-SPHEROCYTIC HEMOLYTIC 1966-67. History Note. ... Anemia [C15.378.071] * Anemia, Hemolytic [C15.378.071.141] * Anemia, Hemolytic, Congenital [C15.378.071.141.150] * Anemia, ... Hemolytic Anemia, Congenital Nonspherocytic Public MeSH Note. 91,68; was see under ANEMIA, HEMOLYTIC, CONGENITAL 1982-90; was ...
MeSH Browser
Anemia, Congenital Nonspherocytic Hemolytic Anemia, Hemolytic Congenital, Nonspherocytic Congenital Nonspherocytic Hemolytic ... use ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC to search ANEMIA, CONGENITAL NON-SPHEROCYTIC HEMOLYTIC 1966-67. History Note. ... Anemia [C15.378.050] * Anemia, Hemolytic [C15.378.050.141] * Anemia, Hemolytic, Congenital [C15.378.050.141.150] * Anemia, ... Hemolytic Anemia, Congenital Nonspherocytic Public MeSH Note. 91,68; was see under ANEMIA, HEMOLYTIC, CONGENITAL 1982-90; was ...
Code System Concept
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism Active Synonym false false ... Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism Active Synonym false false ... Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism (disorder). Code System Preferred Concept Name. ... Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism (disorder). Concept Status. Published. ...
Richard Voit | Harvard Catalyst Profiles | Harvard Catalyst
![PKLR Antibody [Unconjugated] (AF8519): Novus Biologicals](data:image/png;base64,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)
PKLR Antibody [Unconjugated] (AF8519): Novus Biologicals
Anemia. *Anemia, Hemolytic. *Malaria. *Anemia, Hemolytic, Congenital Nonspherocytic. *Dysequilibrium Syndrome. *Gaucher Disease ... to a fully compensated hemolysis without apparent anemia. Additional shorter isoform apparently exists. It is 543 aa in length ... ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic hemolysis, moderate ...
MedlinePlus: Genetic Conditions: N
Nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency, see Glucose phosphate isomerase deficiency ... Night blindness, congenital stationary, autosomal dominant, see Autosomal dominant congenital stationary night blindness ... Nonbullous congenital ichthyosiform erythroderma. *Nonbullous ichthyosiform erythroderma, see Nonbullous congenital ... Non-Shiga-like toxin-associated HUS, see Atypical hemolytic-uremic syndrome. *Non-skeletal hyper-IgE syndrome, see DOCK8 ...
Structure-function relations of human hemoglobins
The first report of a child with idiopathic congenital non-spherocytic hemolytic anemia associated with cyanosis and ... Most patients with this condition are found to have a nonspherocytic hemolytic anemia. The anemia is exacerbated by infections ... Their presence results in the so-called congenital Heinz body hemolytic anemia. ... hemolytic, and aplastic. Damage to the red blood cell membrane gives rise to reduced cell survival and chronic hemolytic anemia ...
D C99102 Glutaric Acidemia Type 2 Glutaric Aciduria, Type 2 A rare autosomal recessive inherited metabolic disorder caused by...
It is the most common inherited cause of non-spherocytic hemolytic anemia. C97090 Amino Acid Metabolism Disorder C131630 Anemia ... C2869 Anemia C104003 Congenital Hematological Disorder C99147 Neonatal Research Network Terminology C C98898 Congenital ... C C34376 Hemolytic Anemia Hemolytic Anemia Anemia resulting from the premature destruction of the peripheral blood red cells. ... C34376 Hemolytic Anemia C34379 Hereditary Hemolytic Anemia C99147 Neonatal Research Network Terminology C C34676 Sickle Cell- ...
CIBA FOUNDATION SYMPOSIUM
... favism and also a haemolytic disease which is probably congenital, non-spherocytic anaemia. These have the same distribution ... or in patients who have haemolytic anaemia and who are always in a phase of reticulocytosis. Ceppellini: A problem which is ... I think it would be worth investigating it in individuals after a haemolytic episode where there was a large amount of ...
MESH TREE NUMBER CHANGES - 2002 MeSH
Congenital C16.320.70.95 Anemia, Hemolytic, Congenital C16.320.70 Anemia, Hemolytic, Congenital Nonspherocytic C16.320.70.100 ... Congenital C16.320.590 Mycology H1.158.273.540.553 Myelinolysis, Central Pontine C10.228.140.163.165.539 C10.228.140.163.560 ... Congenital C16.466.775 C16.320.775 Palladium D1.268.956.718 Papaver B6.560.671 B6.388.100.790.500 Papillomavirus B4.280.570.460 ... Congenital C16.320.33 Adrenoleukodystrophy C10.228.140.163.474.475.600.100 C10.228.140.163.100.680.100 C10.228.140.163.474.649. ...
Carney Complex Type 1 (Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome): Symptoms, Diagnosis and Treatment - Symptoma
CLASSIFICATION OF DISEASES AND INJURIES
... hemolytic nonspherocytic (hereditary), type I Favism 282.3 Other hemolytic anemias due to enzyme deficiency Anemia: hemolytic ... Congenital anemia Anemia following fetal blood loss Excludes: anemia due to isoimmunization (773.-) hereditary hemolytic ... hemolytic disease of newborn (773.-) 283.1 Non-autoimmune hemolytic anemias Hemolytic anemia: Hemolytic anemia: mechanical ... Unspecified Hereditary hemolytic anemia NOS 283 Acquired hemolytic anemias 283.0 Autoimmune hemolytic anemias Autoimmune ...
Celeste Bento (2F17-8B0A-2D56) | CIÊNCIAVITAE
Main scientific areas of research are Hemoglobinopathies, Congenital Hemolytic Anemias and Congenital Erythrocytosis. In ... "Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese ... Diagnosis of congenital hemolytic anemia in the era of NGS. 10th Conference of African Society of Human Genetics (Cairo, Egipto ... Congenital hemolytic anemia study with a targeted NGS panel Clinical Interpretation of Variants from NGS: The 2016 Scientific ...
Mean Corpuscular Volume (MCV): Reference Range, Interpretation, Collection and Panels
Hemolytic anemia, such as autoimmune hemolytic anemia, hereditary spherocytosis, or nonspherocytic congenital hemolytic anemia ... hemolytic anemia and aplastic anemia can manifest as normochromic and normocytic anemia or macrocytic anemia; anemia of chronic ... sideroblastic anemia can be microcytic anemia, macrocytic anemia, or normochromic and normocytic anemia (due to the presence of ... 2] Of note, type of anemia can also be categorized based on bone marrow responses to anemia using reticulocyte count into ...
MedlinePlus: Genetic Conditions: H
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency, see Triosephosphate isomerase ... Hypomyelination and congenital cataract. *Hypomyelination with brain stem and spinal cord involvement and leg spasticity, see ... HSAN type IV, see Congenital insensitivity to pain with anhidrosis. *HSAN type V, see Hereditary sensory and autonomic ... Hereditary familial congenital hemorrhagic nephritis, see Alport syndrome. *Hereditary ferritinopathy, see Neuroferritinopathy ...
Quantitative Genomic Medicine Laboratories, SL - Submitter - ClinVar
Anemia, nonspherocytic hemolytic, due to G6PD deficiency. 1 test. Angelman syndrome. 5 tests. ... Congenital adrenal hypoplasia, X-linked. 5 tests. Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of ... Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type. 1 test. Congenital lipoid adrenal hyperplasia due to STAR deficency. ... Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 1 test. Cleft lip/palate-ectodermal dysplasia syndrome ...
herenciageneticayenfermedad: Browse A-Z | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program H/1 ENGLISH
Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities. *Hemolytic uremic syndrome ... Hexokinase deficiency hemolytic anemia - See Nonspherocytic hemolytic anemia due to hexokinase deficiency ... Hereditary congenital controlateral synkinesia - See Congenital mirror movement disorder. *Hereditary congenital facial paresis ... Hemolytic anemia due to G6PD deficiency - See Glucose-6-phosphate dehydrogenase deficiency ...
2010 ICD-9-CM Diagnosis Code 282.3 : Other hemolytic anemias due to enzyme deficiency
congenital (spherocytic) (see also Spherocytosis) 282.0. *. nonspherocytic - see Anemia, hemolytic, nonspherocytic, congenital ... Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency. *Hereditary nonspherocytic hemolytic anemia due to ... Hereditary nonspherocytic hemolytic anemia due to hexokinase deficiency. *Hereditary nonspherocytic hemolytic anemia due to ... Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency. *Hereditary nonspherocytic hemolytic anemia due ...