commute
发表于 2025-3-25 06:23:30
http://reply.papertrans.cn/51/5001/500069/500069_21.png
无节奏
发表于 2025-3-25 09:34:40
Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Proble, an X-linked lysosomal storage disease caused by deficiency in α-galactosidase, results in intracellular accumulation of globotriaosylceramide. It causes organ dysfunction, most significantly affecting renal, cerebrovascular and cardiovascular systems. Respiratory involvement may include obstructiv
Asperity
发表于 2025-3-25 15:01:27
Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Pris enzyme leads to accumulation of these dipeptides, which correspondingly are found to be elevated in urine. In fact, the absence of dipeptiduria is sufficient to rule out a diagnosis of prolidase deficiency. However, given the fact that these dipeptides elute at the same position as more common am
landmark
发表于 2025-3-25 17:30:38
Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots,or quick early diagnosis. AKU is a rare autosomal recessive disorder caused by deficiency of homogentisate 1,2-dioxygenase, yielding in accumulation of HGA. Its massive excretion causes urine darkening by exposure to air or alkalinization, and is a diagnostic marker. The deposition of polymers produ
Enthralling
发表于 2025-3-25 20:17:41
Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetedosis, hyperlactatemia, hyperammonemia, and insulin-responsive hyperglycemia. Initial metabolic work-up suggested mitochondrial dysfunction. Given our patient’s unusual presentation, whole-exome sequencing (WES) was performed on the parent–offspring trio. The patient was homozygous for the c.643C>T
权宜之计
发表于 2025-3-26 00:29:37
Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Lonation and presents with hypoglycemia, cardiac, liver, eye, and muscle involvement. Without treatment, both conditions can be life-threatening. These diseases are identified by newborn screening (NBS), but the impact of early treatment on long-term clinical outcome is unknown. Moreover, there is lack
小步走路
发表于 2025-3-26 06:23:44
,-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associateathy progressing to cirrhosis, nephropathy, connective tissue abnormalities resembling cutis laxa, coagulopathy, cytopenias, and increased risk of hepatocellular carcinoma. In many cases, death occurs in infancy or early childhood. There is no established treatment for transaldolase deficiency in hu
explicit
发表于 2025-3-26 11:02:14
Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease:se (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, and phosphofructokinase deficiency (Tarui disease or GSD VII)..We present a 35-year-old female who presented with cardiomyopathy after a pregnancy complicated by primary hyperparathyroidism. She had enjoyed excellent h
伪证
发表于 2025-3-26 15:43:56
Chronic Diarrhea in ,-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Amonsynthesis. Cardinal signs consist in psychomotor delay, hypotonia, oculogyric crises, dystonia, and extraneurological symptoms... We present a retrospective descriptive multicentric study concerning ten French children with a biochemical and molecular confirmed diagnosis of AADC deficiency... Clinic
反抗者
发表于 2025-3-26 17:42:28
http://reply.papertrans.cn/51/5001/500069/500069_30.png