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Hereditary disorders of the red cell membrane and disorders of red cell metabolism

Postgraduate Haematology, 2015, p.114-137

2015

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Pseudo-pheochromocytoma due to obstructive sleep apnea: a case report

Endocrinology, diabetes & metabolism case reports, 2022-02, Vol.2022 (1), p.1-4

2022

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Anemia in Adults With Congenital Heart Disease Relates to Adverse Outcome

Journal of the American College of Cardiology, 2009-11, Vol.54 (22), p.2093-2100

2009

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Effectiveness of community-based folate-oriented tertiary interventions on incidence of fetus and birth defects: a protocol for a single-blind cluster randomized controlled trial

BMC pregnancy and childbirth, 2020-08, Vol.20 (1), p.475-475, Article 475

2020

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Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients

Genes, 2021-06, Vol.12 (7), p.958

2021

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MTHFR C677T and MTR A2756G gene polymorphism in neural tube defect patients and its association with red blood cell folate level in Eastern Indian Population

Journal of Indian Association of Pediatric Surgeons, 2022-11, Vol.27 (6), p.699-706

2022

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Red blood cell folate concentrations increase more after supplementation with [6S]-5-methyltetrahydrofolate than with folic acid in women of childbearing age

The American journal of clinical nutrition, 2006-07, Vol.84 (1), p.156-161

2006

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Potential pitfalls and solutions for use of fluorescent fusion proteins to study the lysosome

PloS one, 2014-02, Vol.9 (2), p.e88893

2014

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A novel controlled-release system for antibacterial enzyme lysostaphin delivery using hydroxyapatite/chitosan composite bone cement

PloS one, 2014-12, Vol.9 (12), p.e113797-e113797

2014

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X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

European journal of human genetics : EJHG, 2003-12, Vol.11 (12), p.937-944

2003

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Understanding and Managing Glucose-6-Phosphate Dehydrogenase Deficiency

Journal for nurse practitioners, 2015-04, Vol.11 (4), p.443-450

2015

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Glucose 6‐phosphate dehydrogenase Palermo R257M: a novel variant associated with chronic non‐spherocytic haemolytic anaemia

British journal of haematology, 2010-04, Vol.149 (2), p.296-297

2010

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A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

Journal of medical genetics, 2000-09, Vol.37 (9), p.669-673

2000

Volltextzugriff (PDF)

General considerations of hemolytic diseases, red cell membrane, and enzyme defects

Lanzkowsky's Manual of Pediatric Hematology and Oncology, 2022, p.125-149

Seventh Edition, 2022

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Chapter 7 - General considerations of hemolytic diseases, red cell membrane, and enzyme defects

Lanzkowsky's Manual of Pediatric Hematology and Oncology, 2022, p.125-149

Seventh Edition, 2022

Volltextzugriff (PDF)

Glucose‐6‐phosphate dehydrogenase deficiency

Haematology, 2021, p.72-73

2021

Volltextzugriff (PDF)

General Considerations of Hemolytic Diseases, Red Cell Membrane, and Enzyme Defects

Lanzkowsky's Manual of Pediatric Hematology and Oncology, 2016, p.134-158

Sixth Edition, 2016

Volltextzugriff (PDF)

Chapter 9 - General Considerations of Hemolytic Diseases, Red Cell Membrane, and Enzyme Defects

Lanzkowsky's Manual of Pediatric Hematology and Oncology, 2016, p.134-158

Sixth Edition, 2016

Volltextzugriff (PDF)

Increased superoxide dismutase activity in erythrocytes of children with pulmonary hypertension

Clinica chimica acta, 1992-07, Vol.209 (1), p.95-101

1992

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X-linked Pyridoxine-Responsive Sideroblastic Anemia Due to a Thr388-to-Ser Substitution in Erythroid 5-Aminolevulinate Synthase

The New England journal of medicine, 1994-03, Vol.330 (10), p.675-679

1994

Volltextzugriff (PDF)

The detection of β-globin gene mutations in β-thalassemia using oligonucleotide probes and amplified DNA

Biochimica et biophysica acta, 1988-01, Vol.949 (1), p.43-48

1988

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Decreased red cell enolase activity in a 40-year-old woman with compensated haemolysis

Scandinavian Journal of Haematology, 1984, Vol.33 (5), p.401-404

1984

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Decreased red cell enolase activity in a 40‐year‐old woman with compensated haemolysis

Scandinavian Journal of Haematology, 1984-11, Vol.33 (5), p.401-404

1984

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A population genetic study of the Vania Soni in Western India

Human heredity, 1978, Vol.28 (2), p.104

1978

Volltextzugriff (PDF)

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Anemias. Hemoglobinopathies
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Hereditary disorders of the red cell membrane and disorders of red cell metabolism

Pseudo-pheochromocytoma due to obstructive sleep apnea: a case report

Anemia in Adults With Congenital Heart Disease Relates to Adverse Outcome

Effectiveness of community-based folate-oriented tertiary interventions on incidence of fetus and birth defects: a protocol for a single-blind cluster randomized controlled trial

Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients

MTHFR C677T and MTR A2756G gene polymorphism in neural tube defect patients and its association with red blood cell folate level in Eastern Indian Population

Red blood cell folate concentrations increase more after supplementation with [6S]-5-methyltetrahydrofolate than with folic acid in women of childbearing age

Potential pitfalls and solutions for use of fluorescent fusion proteins to study the lysosome

A novel controlled-release system for antibacterial enzyme lysostaphin delivery using hydroxyapatite/chitosan composite bone cement

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

Understanding and Managing Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose 6‐phosphate dehydrogenase Palermo R257M: a novel variant associated with chronic non‐spherocytic haemolytic anaemia

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

General considerations of hemolytic diseases, red cell membrane, and enzyme defects

Chapter 7 - General considerations of hemolytic diseases, red cell membrane, and enzyme defects

Glucose‐6‐phosphate dehydrogenase deficiency

General Considerations of Hemolytic Diseases, Red Cell Membrane, and Enzyme Defects

Chapter 9 - General Considerations of Hemolytic Diseases, Red Cell Membrane, and Enzyme Defects

Increased superoxide dismutase activity in erythrocytes of children with pulmonary hypertension

X-linked Pyridoxine-Responsive Sideroblastic Anemia Due to a Thr388-to-Ser Substitution in Erythroid 5-Aminolevulinate Synthase

The detection of β-globin gene mutations in β-thalassemia using oligonucleotide probes and amplified DNA

Decreased red cell enolase activity in a 40-year-old woman with compensated haemolysis

Decreased red cell enolase activity in a 40‐year‐old woman with compensated haemolysis

A population genetic study of the Vania Soni in Western India

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