F. Endo

发表

Human ubiquitin‐protein ligase Nedd4: expression, subcellular localization and selective interaction with ubiquitin‐conjugating enzymes

M. Nakao, H. Saya, H. Koga, 1998, Genes to cells : devoted to molecular & cellular mechanisms.

Molecular diagnosis of maple syrup urine disease: Screening and identification of gene mutations in the branched-chain α-ketoacid dehydrogenase multienzyme complex

Y. Nobukuni, F. Endo, H. Mitsubuchi, 1992, Journal of Inherited Metabolic Disease.

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications

F. Endo, T. Nakahata, H. Mitsubuchi, 2002, Human Genetics.

Characterization of the gene encoding human pituitary-specific transcription factor, Pit-1.

T. Ohta, Y. Nobukuni, F. Endo, 1992, Gene.

Complete Defect of the E1,f Subunit of the Branched Chain a-Ketoacid Dehydrogenase Complex Due to a Deletion of an 11-bp Repeat Sequence which Encodes a Mitochondrial Targeting Leader Peptide in a Family with the Disease

Y. Nobukuni, F. Endo, H. Mitsubuchi, 1991 .

LSD1 mediates metabolic reprogramming by glucocorticoids during myogenic differentiation

Mitsuyoshi Nakao, Akihisa Sakamoto, Hirotoshi Tanaka, 2018, Nucleic acids research.

Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease.

Y. Nobukuni, F. Endo, H. Mitsubuchi, 1991, The Journal of clinical investigation.

Mechanism for increased hepatic glycerol synthesis in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse: Urine glycerol and glycerol 3-phosphate as potential diagnostic markers of human citrin deficiency.

T. Saheki, K. Yamamura, T. Kadowaki, 2015, Biochimica et biophysica acta.

Analysis of estrogen receptor β gene methylation in autistic males in a Chinese Han population

M. Nakao, F. Endo, N. Saitoh, 2017, Metabolic Brain Disease.

Structural organization of the gene for human prolidase (peptidase D) and demonstration of a partial gene deletion in a patient with prolidase deficiency.

F. Endo, I. Matsuda, A. Tanoue, 1990, The Journal of biological chemistry.

Correction of ornithine transcarbamylase deficiency in adult spf(ash) mice and in OTC-deficient human hepatocytes with recombinant adenoviruses bearing the CAG promoter.

J. Miyazaki, F. Endo, I. Matsuda, 1996, Human gene therapy.

Estimation of muscle strength from actigraph data in Duchenne muscular dystrophy

F. Endo, S. Kimura, K. Nomura, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

Reduced INF2 expression in nephrotic syndrome is possibly related to clinical severity of steroid resistance in children

F. Endo, Hiroshi Tamura, H. Nakazato, 2016, Nephrology.

Production efficiency and telomere length of the cloned pigs following serial somatic cell nuclear transfer.

K. Okumura, F. Endo, M. Kurome, 2008, The Journal of reproduction and development.

[Hereditary tyrosinemia type III].

F. Endo, 1998, Ryoikibetsu shokogun shirizu.

Clinical and molecular analysis of a Japanese boy with Morquio B disease

F. Endo, I. Matsuda, A. Oshima, 1995, Clinical genetics.

Production of cloned pigs from salivary gland-derived progenitor cells.

K. Okumura, F. Endo, M. Kurome, 2008, Cloning and stem cells.

Complete absence of bile and pancreatic ducts in a newborn: a new entity of congenital anomaly in hepato-pancreatic development

Tetsurou Yamamoto, F. Endo, H. Mitsubuchi, 2003, Journal of Human Genetics.

HPGCD Outperforms HPBCD as a Potential Treatment for Niemann‐Pick Disease Type C During Disease Modeling with iPS Cells

F. Endo, H. Ihn, M. Hamasaki, 2015, Stem cells.

Three brothers with progressive hepatic dysfunction and severe hepatic steatosis due to a patent ductus venosus.

K. Shiraki, F. Endo, I. Matsuda, 1996, Gastroenterology.

Newborn screening for Gaucher disease in Japan

F. Endo, Takahito Inoue, Jun Kido, 2022, Molecular genetics and metabolism reports.

Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis

F. Endo, Y. Indo, I. Matsuda, 2000, Human Genetics.

Newborn screening for lysosomal storage disorders.

F. Endo, D. Millington, Kimitoshi Nakamura, 2005, Clinical chemistry.

Management of undifferentiated sarcoma of the liver including living donor liver transplantation as a backup procedure.

F. Endo, H. Okajima, M. Hashiyama, 2009, Journal of Pediatric Surgery.

Heterochronous bilateral adrenal neuroblastoma: stage 4S in early infancy following resection of stage I lesion in the neonatal period

F. Endo, Y. Inomata, Kwang-jong Lee, 2011, Pediatric Surgery International.

Pulmonary artery hypertension in methylmalonic acidemia

F. Endo, H. Mitsubuchi, Jun Kido, 2017, Hemodialysis international. International Symposium on Home Hemodialysis.

Urea cycle disorders—update

F. Endo, H. Mitsubuchi, J. Häberle, 2019, Journal of Human Genetics.

Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families

F. Endo, Y. Indo, I. Matsuda, 1999, Human Genetics.

Dyslipidemia in young Japanese children: its relation to familial hypercholesterolemiaand familial combined hyperlipidemia

F. Endo, I. Matsuda, T. Ohta, 2002, Pediatrics international : official journal of the Japan Pediatric Society.

Structural analysis of normal and mutant insulin receptors in fibroblasts cultured from families with leprechaunism.

L. Elsas, N. Longo, F. Endo, 1987, American journal of human genetics.

Leprechaunism: an inherited defect in a high-affinity insulin receptor.

L. Elsas, F. Endo, J. Priest, 1985, American journal of human genetics.

Primary structure deduced from complementary DNA sequence and expression in cultured cells of mammalian 4-hydroxyphenylpyruvic acid dioxygenase. Evidence that the enzyme is a homodimer of identical subunits homologous to rat liver-specific alloantigen F.

K. Titani, F. Endo, I. Matsuda, 1992, The Journal of biological chemistry.

Glycine regulates proliferation and differentiation of salivary-gland-derived progenitor cells

F. Endo, K. Takehana, Kimitoshi Nakamura, 2009, Cell and Tissue Research.

Insulin-induced receptor loss reduces responsiveness of chick heart cells to insulin.

R. Dehaan, L. Elsas, F. Endo, 1983, Endocrinology.

Immunochemical analysis of prolidase deficiency and molecular cloning of cDNA for prolidase of human liver

F. Endo, Y. Indo, I. Matsuda, 1987, Journal of Inherited Metabolic Disease.

Apical membrane and junctional complex formation during simple epithelial cell differentiation of F9 cells

F. Endo, T. Matsui, S. Tsukita, 2005, Genes to cells : devoted to molecular & cellular mechanisms.

Beneficial Effect of Insulin Treatment on Islet Transplantation Outcomes in Akita Mice

F. Endo, K. Kume, S. Kume, 2014, PloS one.

Hyperammonaemia in V1a vasopressin receptor knockout mice caused by the promoted proteolysis and reduced intrahepatic blood volume

F. Endo, A. Tanoue, T. Aoyagi, 2007, The Journal of physiology.

Isolation, tissue localization, and cellular characterization of progenitors derived from adult human salivary glands.

K. Okumura, F. Endo, M. Shinohara, 2007, Cloning and stem cells.

Neonatal onset of medium-chain Acyl-CoA dehydrogenase deficiency in two siblings

Y. Nobukuni, F. Endo, Y. Tsuji, 1988, Brain and Development.

Carnitine deficiency and hyperammonemia associated with valproic acid therapy.

F. Endo, I. Matsuda, Y. Ohtani, 1982, The Journal of pediatrics.

VMAT2 identified as a regulator of late-stage β-cell differentiation.

D. Stainier, M. Uesugi, F. Endo, 2014, Nature chemical biology.

A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency

G. Tsujimoto, F. Endo, A. Tanoue, 2000, Journal of Human Genetics.

A murine model for type III tyrosinemia: lack of immunologically detectable 4-hydroxyphenylpyruvic acid dioxygenase enzyme protein in a novel mouse strain with hypertyrosinemia.

F. Endo, I. Matsuda, H. Katoh, 1991, American journal of human genetics.

Hypermetabolism of fat in V1a vasopressin receptor knockout mice.

F. Endo, A. Tanoue, T. Aoyagi, 2007, Molecular endocrinology.

Exon‐skipping events in candidates for clinical trials of morpholino

F. Endo, S. Kimura, K. Nomura, 2011, Pediatrics international : official journal of the Japan Pediatric Society.

Plasma exchange and chelator therapy rescues acute liver failure in Wilson disease without liver transplantation

F. Endo, H. Mitsubuchi, Y. Inomata, 2017, Hepatology research : the official journal of the Japan Society of Hepatology.

Mass screening for Wilson’s disease: Results and recommendations

F. Endo, T. Kitagawa, G. Takada, 1999, Pediatrics international : official journal of the Japan Pediatric Society.

Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency

F. Endo, G. Andria, Y. Indo, 2001, Human mutation.

Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency

F. Endo, I. Matsuda, K. Kiwaki, 1995, Journal of Inherited Metabolic Disease.

Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria.

F. Endo, I. Matsuda, H. Nakazato, 1999, Kidney international.

Amelioration by glycine of brain damage in neonatal rat brain following hypoxia–ischemia

F. Endo, H. Mitsubuchi, Jun Kido, 2017, Pediatrics international : official journal of the Japan Pediatric Society.

Surgical indications for patients with hyperammonemia.

F. Endo, S. Ikeda, Y. Sera, 1999, Journal of pediatric surgery.

Unexpectedly High Prevalence of Coronary Spastic Angina in Patients With Anderson-Fabry Disease.

N. Hasebe, F. Endo, N. Nakagawa, 2019, Circulation journal : official journal of the Japanese Circulation Society.

Fabry disease screening in high-risk populations in Japan: a nationwide study

F. Endo, Jun Kido, Kimitoshi Nakamura, 2020, Orphanet Journal of Rare Diseases.

Oral Supplementation of Vitamin K for Pregnant Women and Effects on Levels of Plasma Vitamin K and PIVKA‐II in the Neonate

F. Endo, I. Matsuda, Y. Kiyota, 1990, Journal of pediatric gastroenterology and nutrition.

Screening for late neonatal vitamin K deficiency by acarboxyprothrombin in dried blood spots.

F. Endo, I. Matsuda, K. Motohara, 1987, Archives of disease in childhood.

Detection of vitamin K deficiency by use of an enzyme-linked immunosorbent assay for circulating abnormal prothrombin.

F. Endo, I. Matsuda, K. Motohara, 1985, Pediatric research.

Chemotactic Receptor of Cord Blood Granulocytes to the Synthesized Chemotactic Peptide N-Formyl-Methionyl-Leucyl-Phenylalanine

F. Endo, I. Matsuda, H. Nunoi, 1983, Pediatric Research.

Analysis of gene expression patterns in the developing chick liver

F. Endo, Norifumi Tatsumi, Y. Yokouchi, 2005, Developmental dynamics : an official publication of the American Association of Anatomists.

Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease.

Y. Nobukuni, F. Endo, H. Mitsubuchi, 1990, The Journal of clinical investigation.

Complete primary structure of the transacylase (E2b) subunit of the human branched chain alpha-keto acid dehydrogenase complex.

Y. Nobukuni, F. Endo, H. Mitsubuchi, 1989, Biochemical and biophysical research communications.

Primary structure and gene localization of human prolidase.

K. Titani, F. Endo, Y. Indo, 1989, The Journal of biological chemistry.

Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia.

M. Takiguchi, F. Endo, I. Matsuda, 1991, Gene.

Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing.

F. Endo, I. Matsuda, T. Matsuura, 1993, The Journal of clinical investigation.

Effect of L-Carnitine on Amino Acid Metabolism in Elderly Patients Undergoing Regular Hemodialysis

F. Endo, Jun Kido, Kimitoshi Nakamura, 2020, Blood Purification.

The Role of Calreticulin in Cardiac Development and Function

M. Michalak, F. Endo, Kimitoshi Nakamura, 2007 .

Structural analysis and subunit interaction of insulin receptor from membranes of cultured embryonic chick heart cells.

L. Elsas, F. Endo, 1984, Endocrinology.

Cerebral hemorrhage in Fabry's disease

Y. Fukushima, F. Endo, S. Ikeda, 2010, Journal of Human Genetics.

Isolation of tissue progenitor cells from duct-ligated salivary glands of swine.

Tetsurou Yamamoto, K. Okumura, Masashi Takahashi, 2007, Cloning and stem cells.

Guide for diagnosis and treatment of hyperphenylalaninemia

F. Endo, Y. Matsubara, T. Okuyama, 2021, Pediatrics international : official journal of the Japan Pediatric Society.

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots.

F. Endo, T. Okuyama, M. Kroos, 2011, Molecular genetics and metabolism.

High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.

F. Endo, T. Okuyama, M. Kroos, 2009, Molecular genetics and metabolism.

Molecular cloning, tissue distribution, and chromosomal localization of human cationic amino acid transporter 2 (HCAT2).

N. Niikawa, F. Endo, I. Matsuda, 1996, Genomics.

[Hand-foot-genital syndrome].

F. Endo, H. Mitsubuchi, 2006, Nihon rinsho. Japanese journal of clinical medicine.

Regulation of receptors and digestive activity toward synthesized formyl-chemotactic peptide in human polymorphonuclear leukocytes.

F. Endo, I. Matsuda, H. Nunoi, 1985, Blood.

Identification of a Novel Mutation and Prevalence Study for Fabry Disease in Japanese Dialysis Patients

T. Nishino, F. Endo, S. Kohno, 2012, Renal failure.

Flow cytometric isolation of endodermal progenitors from mouse salivary gland differentiate into hepatic and pancreatic lineages

Tetsurou Yamamoto, K. Okumura, F. Endo, 2004, Hepatology.

Salivary gland progenitor cells induced by duct ligation differentiate into hepatic and pancreatic lineages

Tetsurou Yamamoto, K. Okumura, F. Endo, 2003, Hepatology.

Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency.

F. Endo, I. Matsuda, M. Shimadzu, 1997, American journal of medical genetics.

Human Erythrocyte Prolidase and Prolidase Deficiency

F. Endo, I. Matsuda, Seiko Tanaka, 1982, Pediatric Research.

Clinical features and management of organic acidemias in Japan

F. Endo, H. Mitsubuchi, T. Yorifuji, 2013, Journal of Human Genetics.

Gas chromatographic–mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples

F. Endo, H. Mitsubuchi, N. Sakura, 2002, Journal of Inherited Metabolic Disease.

Arrhythmia induced by spatiotemporal overexpression of calreticulin in the heart.

Tetsurou Yamamoto, R. Harvey, H. Kurihara, 2007, Molecular genetics and metabolism.

Mutation of the 97-197-197-1subunit of the pyruvate dehydrogenase complex, in relation to heterogeneity

F. Endo, A. Kitano, I. Matsuda, 1989, Journal of Inherited Metabolic Disease.

Immunochemical evidence of pyruvate dehydrogenase (E1) deficiency

F. Endo, A. Kitano, I. Akaboshi, 1988, Journal of Inherited Metabolic Disease.

Immunochemical analysis of pyruvate dehydrogenase complex in 2 boys with primary lactic acidemia

F. Endo, A. Kitano, I. Matsuda, 1990, Neurology.

Deficiency of the E1β subunit in the branched-chain α-keto acid dehydrogenase complex due to a single base substitution to the intron 5, resulting in two alternatively spliced mRNAs in patient with maple syrup urine disease

F. Endo, H. Mitsubuchi, K. Ohta, 1994 .

Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells.

F. Endo, I. Matsuda, Y. Koitabashi, 1994, Kidney international.

Identification of a single base insertion in the COL4A5 gene in Alport syndrome.

F. Endo, I. Matsuda, Y. Koitabashi, 1993, Kidney international.

Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival

F. Endo, H. Mitsubuchi, Jun Kido, 2017, Human Genome Variation.

Prevalence and Cardiovascular Features of Japanese Hemodialysis Patients with Fabry Disease

K. Hirata, F. Endo, H. Fujii, 2009, American Journal of Nephrology.

Sural nerve lesions in a case of hypertyrosinemia

F. Endo, A. Kitano, I. Matsuda, 1982, Brain and Development.

Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing

N. Matsumoto, M. Migita, F. Endo, 2015, Journal of Human Genetics.

[Disorders of amino acid metabolism].

F. Endo, 2001, Nihon rinsho. Japanese journal of clinical medicine.

Autosomal recessive prolidase deficiency. Three patients with recalcitrant ulcers.

F. Endo, I. Kikuchi, T. Tomoda, 1981, Archives of dermatology.

Screening method for prolidase deficiency

F. Endo, I. Matsuda, 1981, Human Genetics.

Antibody‐mediated rejection after ABO‐incompatible pediatric living donor liver transplantation for propionic acidemia: A case report

F. Endo, Y. Inomata, Hidekazu Yamamoto, 2016, Pediatric transplantation.

Correspondence

F. Endo, T. Ueno, I. Matsuda, 1978 .

Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency

F. Endo, I. Matsuda, H. Nunoi, 2000, Human Genetics.

Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.

F. Endo, Y. Indo, I. Matsuda, 2001, Human molecular genetics.

Acarboxy Prothrombin (PIVKA‐II) as a Marker of Hepatoblastoma in Infants

F. Endo, I. Matsuda, T. Iwamasa, 1987, Journal of pediatric gastroenterology and nutrition.

Sex-determining region Y (SRY) in a patient with 46,XX true hermaphroditism

F. Endo, A. Tanoue, I. Matsuda, 1992, Japanese Journal of Human Genetics.

Evaluation of persistence of ductus venosus with Tc-99m DTPA galactosyl human serum albumin liver scintigraphy and I-123 iodoamphetamine per-rectal portal scintigraphy

F. Endo, S. Tomiguchi, Mutsumasa Takahashi, 2000, Annals of nuclear medicine.

Membranoproliferative glomerulonephritis in congenital portosystemic shunt without liver cirrhosis.

F. Endo, S. Ikeda, Y. Sera, 2000, Clinical nephrology.

The long-term prognosis of congenital portosystemic venous shunt.

F. Endo, I. Matsuda, T. Uchino, 1999, The Journal of pediatrics.

A nonsense mutation in the 4-hydroxyphenylpyruvic acid dioxygenase gene (Hpd) causes skipping of the constitutive exon and hypertyrosinemia in mouse strain III.

F. Endo, I. Matsuda, H. Katoh, 1995, Genomics.

Carnitine deficiency and associated with valproic hyperammonemia acid therapy

F. Endo, I. Matsuda, Y. Ohtani, 1982 .

Measurement of blood holoceruloplasmin by EIA using a mouse monoclonal antibody directed to holoceruloplasmin. Implication for mass screening of Wilson disease

F. Endo, K. Taketa, I. Matsuda, 1994, Journal of Inherited Metabolic Disease.

Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening

F. Endo, A. Ohtake, F. Takada, 2020, Molecular genetics & genomic medicine.

Urea cycle disorders—update

F. Endo, H. Mitsubuchi, J. Häberle, 2019, Journal of Human Genetics.

Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan

F. Endo, I. Matsuda, T. Uchino, 1998, Journal of Inherited Metabolic Disease.

Capability of Tissue Stem Cells to Organize into Salivary Rudiments

K. Okumura, F. Endo, M. Shinohara, 2012, Stem cells international.

Newborn screening for Fabry disease in the western region of Japan

F. Endo, S. Hirose, Takahito Inoue, 2020, Molecular genetics and metabolism reports.

High-risk screening for Anderson–Fabry disease in patients with cardiac, renal, or neurological manifestations

N. Hasebe, F. Endo, J. Sawada, 2019, Journal of Human Genetics.

Gene analysis of mennonite maple syrup urine disease kindred using primer-specified restriction map modification

Y. Nobukuni, F. Endo, H. Mitsubuchi, 1992, Journal of Inherited Metabolic Disease.

Current status of newborn screening for Pompe disease in Japan

F. Endo, S. Ohga, S. Hirose, 2021, Orphanet Journal of Rare Diseases.

Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency: a new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activity.

F. Endo, I. Matsuda, Y. Sagara, 1996, American journal of medical genetics.

Long-term outcome and intervention of urea cycle disorders in Japan

M. Matsuo, F. Endo, H. Mitsubuchi, 2012, Journal of Inherited Metabolic Disease.

Organ and cell-basedr eplacement therapy for the treatment of urea cycle disorders

F. Endo, Shirou Matsumoto, 2015 .

Current status of surviving patients with arginase 1 deficiency in Japan

J. Kagawa, F. Endo, Keitaro Yamada, 2021, Molecular genetics and metabolism reports.

Liver transplantation may prevent neurodevelopmental deterioration in high‐risk patients with urea cycle disorders

F. Endo, H. Mitsubuchi, Jun Kido, 2017, Pediatric transplantation.

Hyperammonemia crisis following parturition in a female patient with ornithine transcarbamylase deficiency

F. Endo, H. Mitsubuchi, T. Ohba, 2017, World journal of hepatology.

Clinical manifestations and growth of patients with urea cycle disorders in Japan

F. Endo, H. Mitsubuchi, Jun Kido, 2016, Journal of Human Genetics.

Diagnosis and treatment of urea cycle disorder in Japan

F. Endo, H. Mitsubuchi, Jun Kido, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

Clinical manifestations of inborn errors of the urea cycle and related metabolic disorders during childhood.

F. Endo, I. Matsuda, T. Matsuura, 2004, The Journal of nutrition.

Manifestations of Inborn Errors of the Urea Cycle and Related Metabolic Disorders during Childhood 1

F. Endo, I. Matsuda, T. Matsuura, 2004 .

Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations

J. A. Arranz, M. Tuchman, V. Rubio, 2010, Journal of Human Genetics.

FGF signaling segregates biliary cell‐lineage from chick hepatoblasts cooperatively with BMP4 and ECM components in vitro

F. Endo, Norifumi Tatsumi, K. Katsu, 2008, Developmental dynamics : an official publication of the American Association of Anatomists.

Characterization of a point mutation in the pyruvate dehydrogenase E1α gene from two boys with primary lactic acidaemia

F. Endo, A. Kitano, I. Matsuda, 1994, Journal of Inherited Metabolic Disease.

Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes

F. Endo, I. Matsuda, C. Setoyama, 1994, Human Genetics.

Mutations in the CLCN5 gene in Japanese patients with familial idiopathic low-molecular-weight proteinuria.

F. Endo, I. Matsuda, H. Nakazato, 1997, Kidney international.

Splicing mutations in the COL4A5 gene in Alport's syndrome: different mRNA expression between leukocytes and fibroblasts.

F. Endo, I. Matsuda, H. Nakazato, 1995, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I.

F. Endo, A. Kitano, I. Matsuda, 1994, Biochimica et biophysica acta.

Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early‐onset OTC deficiency

Y. Sakaki, I. Kato, F. Endo, 1994, Human mutation.

Heterogeneity of mutations in Maple Syrup Urine Disease (MSUD): screening and identification of affected E1α and E1β subunits of the branched-chain α-keto-acid dehydrogenase multienzyme complex

F. Endo, H. Mitsubuchi, K. Ohta, 1993 .

Abnormal mRNA and inactive polypeptide in a patient with prolidase deficiency

F. Endo, I. Matsuda, A. Tanoue, 1991, Journal of Inherited Metabolic Disease.

Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms. A 0.8-kb deletion with breakpoints at the short, direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptide.

F. Endo, I. Akaboshi, I. Matsuda, 1991, The Journal of clinical investigation.

A T-to-A substitution in the E1α subunit gene of the branched-chain α-ketoacid dehydrogenase complex in two cell lines derived from menonite maple syrup urine disease patients

Y. Nobukuni, F. Endo, H. Mitsubuchi, 1990 .

A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells.

F. Endo, A. Kitano, I. Matsuda, 1990, The Journal of clinical investigation.

Methionine metabolism regulates maintenance and differentiation of human pluripotent stem cells.

H. Aburatani, G. Nagae, F. Endo, 2014, Cell metabolism.

Evaluation of systemic inflammatory responses in neonates with herpes simplex virus infection.

F. Endo, M. Hayakawa, T. Morishima, 2004, The Journal of infectious diseases.

Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors.

F. Endo, I. Matsuda, K. Urakami, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies

Y. Fukushima, J. Inazawa, S. Saitoh, 2011, Journal of Human Genetics.

Another autosomal recessive form of focal glomerulosclerosis with neurological findings

F. Endo, H. Nakazato, S. Hattori, 2002, Pediatric Nephrology.

Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency

T. Saheki, F. Endo, Keiko Kobayashi, 1998, Human mutation.

Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.

F. Endo, I. Matsuda, M. Yoshino, 1996, Journal of medical genetics.

Inborn Errors of Proline Metabolism 1-3

F. Endo, H. Mitsubuchi, Kimitoshi Nakamura, 2016 .

Inborn errors of proline metabolism.

F. Endo, H. Mitsubuchi, Kimitoshi Nakamura, 2008, The Journal of nutrition.

Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease.

F. Endo, H. Mitsubuchi, K. Ohta, 1994, Biochimica et biophysica acta.

Serum cytochrome c level as a prognostic indicator in patients with systemic inflammatory response syndrome.

F. Endo, M. Hirota, K. Okamoto, 2004, Clinica chimica acta; international journal of clinical chemistry.

Biochemical and clinical features of hereditary hyperprolinemia

F. Endo, H. Mitsubuchi, Kimitoshi Nakamura, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

Plasma concentrations of vitamin K1 and PIVKA-II in bottle-fed and breast-fed infants with and without vitamin K prophylaxis at birth

W. Lambert, F. Endo, I. Matsuda, 1988, European Journal of Pediatrics.

Influence of the type of feeding on the presence of PIVKA-II in infants.

F. Endo, I. Matsuda, L. Monnens, 1986, Helvetica paediatrica acta.

EFFECT OF VITAMIN K ADMINISTRATION ON ACARBOXY PROTHROMBIN (PIVKA-II) LEVELS IN NEWBORNS

F. Endo, I. Matsuda, K. Motohara, 1985, The Lancet.

Living donor liver transplantation from a heterozygous parent for classical maple syrup urine disease

F. Endo, H. Mitsubuchi, Y. Inomata, 2015, Pediatric transplantation.

Erratum to Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families

F. Endo, Y. Indo, I. Matsuda, 2000, Human Genetics.

Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.

F. Endo, G. Andria, Y. Indo, 1999, American journal of human genetics.

Carbamazepine–imatinib interaction in a child with chronic myeloid leukemia

F. Endo, H. Jono, H. Saito, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency.

Y. Nobukuni, F. Endo, H. Mitsubuchi, 1992, Biochemical and biophysical research communications.

Reversibility of hyperintense globus pallidus on T 1-weighted MRI follow- ing surgery for a portosystemic shunt in an 8-year-old girl

F. Endo, S. Ikeda, Y. Sera, 1999, Pediatric Radiology.

X‐inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency

F. Endo, I. Matsuda, K. Furusho, 1998, Clinical genetics.

Ligation of HLA-DR Molecules on B Cells Induces Enhanced Expression of IgM Heavy Chain Genes in Association with Syk Activation*

S. Matsushita, Y. Nishimura, F. Endo, 2000, The Journal of Biological Chemistry.

Successful coil embolization in an infant with congenital intrahepatic portosystemic shunts.

M. Ohmuraya, F. Endo, T. Beppu, 1999, Journal of pediatric surgery.

Markers associated with inborn errors of metabolism of branched-chain amino acids and their relevance to upper levels of intake in healthy people: an implication from clinical and molecular investigations on maple syrup urine disease.

F. Endo, H. Mitsubuchi, M. Owada, 2005, The Journal of nutrition.

Isolation and characterization of a complementary DNA clone coding for the E1 beta subunit of the bovine branched-chain alpha-ketoacid dehydrogenase complex: complete amino acid sequence of the precursor protein and its proteolytic processing.

K. Titani, Y. Nobukuni, F. Endo, 1990, Biochemistry.

Complete Primary Structure of the ElS Subunit of Human Branched Chain a-Ketoacid Dehydrogenase Complex Deduced from the Nucleotide Sequence and a Gene Analysis of Patients with This Disease

Y. Nobukuni, F. Endo, H. Mitsubuchi, 1990 .

Improvement in the prognosis and development of patients with methylmalonic acidemia after living donor liver transplant

F. Endo, H. Mitsubuchi, Y. Inomata, 2016, Pediatric transplantation.

Biochemical nature of pyruvate dehydrogenase complex in the patient with primary lactic acidaemia

F. Endo, Y. Kuroda, A. Kitano, 1989, Journal of Inherited Metabolic Disease.

Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease.

F. Endo, A. Kitano, I. Akaboshi, 1987, The Journal of clinical investigation.

Haplotype and mutation analysis in Japanese patients with Wilson disease.

T. Nakajima, F. Endo, D. Cox, 1997, American journal of human genetics.

Late neonatal vitamin K deficiency associated with subclinical liver dysfunction in human milk-fed infants.

F. Endo, I. Matsuda, S. Nishiyama, 1989, The Journal of pediatrics.

Vitamin K Prevention of Neonatal and Late Neonatal Bleeding

I. Matsuda, F. Endo, T. Ogata, 1989, Acta paediatrica Japonica : Overseas edition.

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.

G. Borsani, A. Ballabio, M. P. Sperandeo, 2000, American journal of human genetics.

Animal models of tyrosinemia.

F. Endo, H. Mitsubuchi, Kimitoshi Nakamura, 2007, The Journal of nutrition.

Vitamin K deficiency in infancy.

F. Endo, I. Matsuda, K. Motohara, 1991, World review of nutrition and dietetics.

Molecular basis of prolidase (peptidase D) deficiency.

F. Endo, I. Matsuda, 1991, Molecular biology & medicine.

Four-Hydroxyphenylpyruvic Acid Oxidase Deficiency with Normal Fumarylacetoacetase: a New Variant Form of Hereditary Hypertyrosinemia

F. Endo, A. Kitano, I. Matsuda, 1983, Pediatric Research.

Delayed cutaneous hypersensitivity in children with severe multiple handicaps treated with phenytoin

F. Endo, A. Higashi, T. Ikeda, 1978, European Journal of Pediatrics.

Maple syrup urine disease: Clinical and biochemical significance of gene analysis

Y. Nobukuni, F. Endo, H. Mitsubuchi, 1991, Journal of Inherited Metabolic Disease.

The human prolidase gene: Structure and restriction fragment length polymorphisms

F. Endo, I. Matsuda, A. Tanoue, 1990, Journal of Inherited Metabolic Disease.

Heterogeneous phenotypes of Japanese cases with a growth hormone gene deletion

F. Endo, I. Akaboshi, I. Matsuda, 1987, Japanese Journal of Human Genetics.

Evaluation of small hypothalamic hamartomas with 3D constructive interference in steady state (CISS) sequence

T. Hirai, M. Kitajima, Y. Yamashita, 2005, Neuroradiology.

Familial supernumerary non‐satellited microchromosome

F. Endo, M. Tsukahara, K. Matsuo, 1986, Clinical genetics.

A family with histidinemic parents.

F. Endo, I. Matsuda, N. Nagata, 1983, The Journal of pediatrics.

BLOOD HISTIDINE LEVELS DURING COURSE OF HISTIDINAEMIA

F. Endo, I. Matsuda, N. Nagata, 1982, The Lancet.

Immunochemical Studies of Human Prolidase with Monoclonal and Polyclonal Antibodies:Absence of the Subunit of Prolidase in Erythrocytes from a Patient with Prolidase Deficiency

F. Endo, Y. Indo, I. Matsuda, 1987, Pediatric Research.

Skin histidase activity and urine formiminoglutamic acid (FIGLU) in patients with histidinemia found by screening newborn infants.

T. Miyakita, F. Endo, I. Matsuda, 1982, Clinica chimica acta; international journal of clinical chemistry.

Diagnosis and treatment of hereditary tyrosinemia in Japan

F. Endo, H. Mitsubuchi, Kimitoshi Nakamura, 2015, Pediatrics international : official journal of the Japan Pediatric Society.

Plasma PIVKA-II levels in epileptic patients

F. Endo, I. Matsuda, K. Motohara, 1990, Brain and Development.

A mouse model of renal tubular injury of tyrosinemia type 1: development of de Toni Fanconi syndrome and apoptosis of renal tubular cells in Fah/Hpd double mutant mice.

F. Endo, I. Matsuda, S. Kubo, 2000, Journal of the American Society of Nephrology : JASN.

Animal models reveal pathophysiologies of tyrosinemias.

G. Tsujimoto, F. Endo, A. Tanoue, 2003, The Journal of nutrition.

Apoptosis under hypercytokinemia is a possible pathogenesis in influenza‐associated encephalopathy

Kenji Okajima, Hiroshi Sakata, F. Endo, 2005, Pediatrics international : official journal of the Japan Pediatric Society.

Deduced amino acid sequence of human prolidase and molecular analyses of prolidase deficiency

F. Endo, A. Kitano, I. Matsuda, 1989, Journal of Inherited Metabolic Disease.

Vitamin K effect in low birth weight infants.

F. Endo, T. Ikeda, I. Matsuda, 1988, Pediatrics.

A Missense Mutation (GGC[435Gly]→AGC[Ser]) in Exon 8 of the CYP11B2 Gene Inherited in Japanese Patients with Congenital Hypoaldosteronism

S. Onishi, F. Endo, Y. Doi, 2003, Hormone Research in Paediatrics.

Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes

F. Endo, H. Mitsubuchi, T. Yorifuji, 2013, Journal of Human Genetics.

Re‐evaluation of the indications for liver transplantation in Wilson's disease based on the outcomes of patients referred to a transplant center

F. Endo, H. Okajima, H. Mitsubuchi, 2013, Pediatric transplantation.

Assignment of the human carbamyl phosphate synthetase I gene (CPS1) to 2q35 by fluorescence in situ hybridization.

N. Niikawa, T. Ohta, F. Endo, 1995, Genomics.

Excess Copper and Ceruloplasmin Biosynthesis in Long-term Cultured Hepatocytes from Long-Evans Cinnamon (LEC) Rats, a Model of Wilson Disease (*)

F. Endo, I. Matsuda, A. Tanoue, 1995, The Journal of Biological Chemistry.

Prolidase Deficiency

F. Endo, A. Tanoue, 1985, Ryoikibetsu shokogun shirizu.

Intracellular distribution of the Wilson's disease gene product (atpase7b) after in vitro and in vivo exogenous expression in hepatocytes from the LEC rat, an animal model of Wilson's disease

Tetsurou Yamamoto, F. Endo, Kazunori Koiwai, 1998, Hepatology.

Chronic thromboembolic pulmonary hypertension complicated with homocystinuria.

F. Endo, S. Hokimoto, S. Tayama, 2014, Internal medicine.

Increased Urinary Excretion of 3‐Oxo‐Δ4 Bile Acids in Japanese Patients with Idiopathic Neonatal Cholestasis

F. Endo, M. Kawai, M. Suzuki, 1998, Journal of Pediatric Gastroenterology and Nutrition.

Tyrosinemia type Mike disease: A possible manifestation of 3‐oxo‐Δ 4 ‐steroid 5β‐reductase deficiency

F. Endo, A. Kimura, T. Kurosawa, 1998 .

Rhabdomyolysis in organic acidemia patients manifesting with metabolic decompensation

F. Endo, Jun Kido, Kimitoshi Nakamura, 2019, Hemodialysis international. International Symposium on Home Hemodialysis.

Tyrosinaemia type III: Immunochemical studies on 4-hydroxyphenylpyruvic acid dioxygenase and molecular cloning of cDNA for the enzyme

F. Endo, I. Matsuda, A. Tanoue, 1991, Journal of Inherited Metabolic Disease.

In vivo correction with recombinant adenovirus of 4-hydroxyphenylpyruvic acid dioxygenase deficiencies in strain III mice.

J. Miyazaki, F. Endo, I. Matsuda, 1997, Human gene therapy.

Interactive network analysis of the plasma amino acids profile in a mouse model of hyperglycemia

F. Endo, K. Shimbo, T. Ando, 2013, SpringerPlus.

Differences between the amino acid concentrations of umbilical venous and arterial blood

F. Endo, T. Muramatsu, T. Ando, 2009, Archives of Disease in Childhood Fetal and Neonatal Edition.

Structure of the human 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD).

F. Endo, I. Matsuda, H. Awata, 1994, Genomics.

2 nd Amino Acid Workshop Animal Models Reveal Pathophysiologies of Tyrosinemias 1 , 2

G. Tsujimoto, F. Endo, A. Tanoue, 2003 .

2nd Amino Acid Workshop Animal Models Reveal Pathophysiologies of Tyrosinemias

G. Tsujimoto, F. Endo, A. Tanoue, 2003 .

Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.

D. Danks, F. Endo, I. Matsuda, 2000, Molecular genetics and metabolism.

Gene expression profiles of homogentisate-treated Fah-/- Hpd-/-mice using DNA microarrays.

G. Tsujimoto, F. Endo, A. Tanoue, 2006, Molecular genetics and metabolism.

Relationship of milk intake and vitamin K supplementation to vitamin K status in newborns.

F. Endo, I. Matsuda, Y. Kiyota, 1989, Pediatrics.

Newborn hearing screening in a single private Japanese obstetric hospital

F. Endo, Yasuko Nakamura, M. Nishioka, 2006, Pediatrics international : official journal of the Japan Pediatric Society.

Lowe syndrome

F. Endo, T. Kawano, 2012, Communicative & Integrative Biology.

Vitamin K Deficiency in Breast‐Fed Infants at One Month of Age

F. Endo, I. Matsuda, K. Motohara, 1986, Journal of Pediatric Gastroenterology and Nutrition - JPGN.

Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients

F. Endo, S. Hirose, Takahito Inoue, 2019, Journal of Human Genetics.

Hereditary tyrosinemia type 1

F. Endo, 1991, Ryoikibetsu shokogun shirizu.

Tyrosinaemia type I and apoptosis of hepatocytes and renal tubular cells

F. Endo, M-S Sun, 2002, Journal of Inherited Metabolic Disease.

Aromatic Amino Acids and Related Substances :

F. Endo, H. Mitsubuchi, Kimitoshi Nakamura, 2007 .

Animal Models of Tyrosinemia 1-3

F. Endo, H. Mitsubuchi, Kimitoshi Nakamura, 2007 .

High-risk screening for Gaucher disease in patients with neurological symptoms

F. Endo, Jun Kido, Kimitoshi Nakamura, 2018, Journal of Human Genetics.

Prenatal diagnosis of Gaucher disease using next‐generation sequencing

F. Endo, H. Mitsubuchi, Jun Kido, 2016, Pediatrics international : official journal of the Japan Pediatric Society.

VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection

F. Endo, S. Okada, M. Tsumura, 2013, Pediatrics international : official journal of the Japan Pediatric Society.

Clinical and genetic features of lysinuric protein intolerance in Japan

F. Endo, Shigenori Yamamoto, T. Okuyama, 2016, Pediatrics international : official journal of the Japan Pediatric Society.

Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency

K. Ihara, F. Endo, T. Morimoto, 2007, Journal of Human Genetics.

Time-dependent changes in the plasma amino acid concentration in diabetes mellitus.

F. Endo, K. Shimbo, T. Ando, 2011, Molecular genetics and metabolism.

Kinetic analysis of argininosuccinate synthetase in a variant form of citrullinaemia

T. Saheki, F. Endo, I. Akaboshi, 1983, Journal of Inherited Metabolic Disease.

Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity

Y. Nobukuni, F. Endo, I. Akaboshi, 1988, Human Genetics.

Structural organization and chromosomal localization of the gene for the E1 beta subunit of human branched chain alpha-keto acid dehydrogenase.

Y. Nobukuni, F. Endo, H. Mitsubuchi, 1991, The Journal of biological chemistry.

Maple Syrup Urine Disease Caused by a Partial Deletion in the Inner E 2 Core Domain of the Branched Chain a-Keto Acid Dehydrogenase Complex due to Aberrant Splicing

Y. Nobukuni, F. Endo, I. Akaboshi, 2013 .

Ornithine transcarbamylase (OTC) in white blood cells and jejunal mucosa.

F. Endo, I. Akaboshi, I. Matsuda, 1982, Advances in experimental medicine and biology.

Hypermetabolism of Fat in V 1 a Vasopressin Receptor Knockout Mice

F. Endo, A. Tanoue, T. Aoyagi, 2006 .

Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment

F. Endo, H. Mitsubuchi, Jun Kido, 2018, Metabolic brain disease.

Successful treatment of refractory donor lymphocyte infusion‐induced immune‐mediated pancytopenia with rituximab

F. Endo, I. Kato, S. Adachi, 2009, Pediatric blood & cancer.

Putative genetic deficiency of 4-hydroxyphenylpyruvic acid dioxygenase in mice: A murine model for hereditary tyrosinaemia type III

F. Endo, I. Matsuda, H. Katoh, 1990, Journal of Inherited Metabolic Disease.

Structural Organization and Chromosomal Localization of the Gene for the El@ Subunit of Human Branched Chain a-Keto Acid Dehydrogenase*

Y. Nobukuni, F. Endo, H. Mitsubuchi, 1991 .

Biochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypes.

D. Danks, F. Endo, A. Kitano, 1990, The Journal of clinical investigation.

Assessment of Neurogenesis and White Matter Regeneration

F. Endo, H. Mitsubuchi, Shirou Matsumoto, 2012 .

Amelioration of prolidase deficiency in fibroblasts using adenovirus mediated gene transfer

S. Tsujino, F. Endo, T. Oono, 1997, Japanese Journal of Human Genetics.

p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small‐vessel occlusion in elderly Japanese males

Y. Fukushima, F. Endo, S. Ikeda, 2014, European journal of neurology.

Immunoaffinity purification of human erythrocyte prolidase.

F. Endo, I. Matsuda, A. Tanoue, 1988, Clinica chimica acta; international journal of clinical chemistry.

Early intervention for late‐onset ornithine transcarbamylase deficiency

F. Endo, H. Mitsubuchi, Kimitoshi Nakamura, 2015, Pediatrics International.

Immunohistochemical determination of the Wilson Copper-transporting P-type ATPase in the brain tissues of the rat

T. Hosokawa, M. Kurasaki, F. Endo, 1999, Neuroscience Letters.