Results 171 to 180 of about 617,364 (191)
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti +12 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione +12 more
wiley +1 more source
Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa +2 more
wiley +1 more source
Thrombocytopenia and Anemia After Cardiac Surgery
American Journal of Hematology, EarlyView.
Myriam Beshai +2 more
wiley +1 more source
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Journal of Mental Science, 1962
Patients in the care of the Department of Psychological Medicine, Guy's Hospital, who are receiving moderate and large doses of phenothiazine drugs are regularly tested for evidence of hepatic or haematological disturbance. In the course of such an investigation, when the urine of a schizophrenic patient was tested with modified Ehrlich's reagent for ...
R. G. Huntsman, P. D. Griffiths, S. Gold
openaire +3 more sources
Patients in the care of the Department of Psychological Medicine, Guy's Hospital, who are receiving moderate and large doses of phenothiazine drugs are regularly tested for evidence of hepatic or haematological disturbance. In the course of such an investigation, when the urine of a schizophrenic patient was tested with modified Ehrlich's reagent for ...
R. G. Huntsman, P. D. Griffiths, S. Gold
openaire +3 more sources
Nature, 1947
In 1944 Albanese, Frankston and Irby1 published their hydrogen peroxide – perchloric acid oxidation method for the estimation of methionine in protein hydrolysates and human urine. They stated: “… the applicability of the procedure to the urine was established by means of a study which demonstrated that the normal urinary constituents failed to react ...
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In 1944 Albanese, Frankston and Irby1 published their hydrogen peroxide – perchloric acid oxidation method for the estimation of methionine in protein hydrolysates and human urine. They stated: “… the applicability of the procedure to the urine was established by means of a study which demonstrated that the normal urinary constituents failed to react ...
openaire +3 more sources
JAMA: The Journal of the American Medical Association, 1974
THE familiar color of urine may dramatically depart from yellow to assume various shades of white, orange, green, red, brown, and black. This urinary rainbow contains a treasure of clinical clues to the physician, who reads them correctly. For example, milky white urine may be the result of pus, phosphate crystals, or occasionally chyle.
openaire +3 more sources
THE familiar color of urine may dramatically depart from yellow to assume various shades of white, orange, green, red, brown, and black. This urinary rainbow contains a treasure of clinical clues to the physician, who reads them correctly. For example, milky white urine may be the result of pus, phosphate crystals, or occasionally chyle.
openaire +3 more sources
AJN, American Journal of Nursing, 1934
Robert A. Kilduffe, Louis Gershenfeld
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Robert A. Kilduffe, Louis Gershenfeld
openaire +2 more sources