T. Yorifuji

T. Manabe, M. Hasegawa, S. Uemoto, 2009, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

Prescription trends for treatment of paediatric gastroenteritis at a Japanese hospital between 1997 and 2007

T. Nakahata, T. Yorifuji, F. Kita, 2010, Journal of clinical pharmacy and therapeutics.

Fluctuation of lipoprotein metabolism linked with bile acid-activated liver nuclear receptors in Alagille syndrome.

H. Tsukahara, Kunihiko Kobayashi, T. Miida, 2008, Atherosclerosis.

Depletion of High-density Lipoprotein and Appearance of Triglyceride-rich Low-density Lipoprotein in a Japanese Patient With FIC1 Deficiency Manifesting Benign Recurrent Intrahepatic Cholestasis

H. Tsukahara, M. Hasegawa, Kunihiko Kobayashi, 2007, Journal of pediatric gastroenterology and nutrition.

Once-Weekly Somapacitan vs Daily GH in Children With GH Deficiency: Results From a Randomized Phase 2 Trial

A. Eliakim, M. Phillip, T. Battelino, 2020, The Journal of clinical endocrinology and metabolism.

Acquired growth hormone deficiency due to pituitary stalk transection after head trauma in childhood

M. Kaji, T. Momoi, H. Sasaki, 1993, European Journal of Pediatrics.

Childbirth and fertility preservation in childhood and adolescent cancer patients: a second national survey of Japanese pediatric endocrinologists

C. Shimizu, T. Ogata, K. Ozono, 2017, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Gonadal function, fertility, and reproductive medicine in childhood and adolescent cancer patients: a national survey of Japanese pediatric endocrinologists

C. Shimizu, T. Ogata, K. Ozono, 2016, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening

H. Tsukahara, T. Miida, A. Ohtake, 2011, Journal of Bone and Mineral Metabolism.

Intracranial aneurysms in Ehlers-Danlos syndrome type IV in early childhood.

T. Nakahata, H. Hattori, T. Yorifuji, 2001, Pediatric neurology.

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

T. Ogata, S. Saitoh, R. Kosaki, 2017, Genetics in Medicine.

Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications for the mechanism leading to generation of a 45,X karyotype.

T. Nakahata, M. Kaji, T. Momoi, 2002, American journal of medical genetics.

Changes in the ganglioside composition of human neuroblastoma cells under different growth conditions

M. Kaji, T. Momoi, H. Sasaki, 1991, International journal of cancer.

Efficacy and safety of octreotide for the treatment of congenital hyperinsulinism: a prospective, open-label clinical trial and an observational study in Japan using a nationwide registry.

T. Sairenchi, T. Ogata, K. Ozono, 2017, Endocrine journal.

Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency

T. Matsuishi, T. Saheki, Keiko Kobayashi, 2010, Hepatology research : the official journal of the Japan Society of Hepatology.

Blood asymmetric dimethylarginine and nitrite/nitrate concentrations in short-stature children born small for gestational age with and without growth hormone therapy

H. Tsukahara, T. Miida, T. Yorifuji, 2017, The Journal of international medical research.

Clinical practice guidelines for congenital hyperinsulinism

S. Ida, T. Yorifuji, T. Hasegawa, 2017, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Effects of bezafibrate on dyslipidemia with cholestasis in children with familial intrahepatic cholestasis-1 deficiency manifesting progressive familial intrahepatic cholestasis.

H. Tsukahara, S. Uemoto, Kunihiko Kobayashi, 2009, Metabolism: clinical and experimental.

Evaluation of risk for atherosclerosis in Alagille syndrome and progressive familial intrahepatic cholestasis: two congenital cholestatic diseases with different lipoprotein metabolisms.

M. Hasegawa, Kunihiko Kobayashi, H. Chiba, 2005, The Journal of pediatrics.

Apolipoprotein E (ApoE) and ApoE-rich high-density cholesterol as potential early diagnostic markers of congenital biliary tract anomalies.

Kunihiko Kobayashi, H. Chiba, T. Yorifuji, 2003, The Journal of pediatrics.

Altered metabolisms of mediators controlling vascular function and enhanced oxidative stress in asymptomatic children with congenital portosystemic venous shunt.

H. Tsukahara, Kunihiko Kobayashi, T. Miida, 2010, Metabolism: clinical and experimental.

Relationship Between Oxidative Stress and Antioxidant Systems in the Liver of Patients With Wilson Disease: Hepatic Manifestation in Wilson Disease as a Consequence of Augmented Oxidative Stress

H. Tsukahara, S. Uemoto, Kunihiko Kobayashi, 2006, Pediatric Research.

Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuria.

H. Tsukahara, T. Miida, A. Ohtake, 2011, Molecular genetics and metabolism.

Comprehensive molecular analysis of Japanese patients with pediatric‐onset MODY‐type diabetes mellitus

T. Urakami, T. Yorifuji, Y. Hosokawa, 2012, Pediatric diabetes.

Cholesterol Metabolism Is Enhanced in the Liver and Brain of Children With Citrin Deficiency

H. Tsukahara, K. Ihara, A. Honda, 2018, The Journal of clinical endocrinology and metabolism.

Longitudinal Glycaemic Profiles during Remission in 6q24-Related Transient Neonatal Diabetes Mellitus

T. Yorifuji, M. Mimaki, T. Isojima, 2021, Hormone Research in Paediatrics.

Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period.

H. Tsukahara, T. Saheki, T. Miida, 2009, Molecular genetics and metabolism.

Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation

T. Yorifuji, R. Kawakita, Y. Hosokawa, 2012, Journal of Medical Genetics.

Nateglinide is Effective for Diabetes Mellitus with Reactive Hypoglycemia in a Child with a Compound Heterozygous ABCC8 Mutation

S. Kure, T. Yorifuji, I. Fujiwara, 2012, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Intractable diarrhea after liver transplantation for Byler's disease: Successful treatment with bile adsorptive resin

M. Hasegawa, T. Yorifuji, H. Egawa, 2002, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

Diagnosis of congenital hyperinsulinism: Biochemical profiles during hypoglycemia

T. Yorifuji, Y. Hasegawa, Y. Hashimoto, 2018, Pediatric diabetes.

Craniotabes in normal newborns: the earliest sign of subclinical vitamin D deficiency.

T. Nakahata, H. Hatayama, T. Momoi, 2008, The Journal of clinical endocrinology and metabolism.

Incidence rate and characteristics of symptomatic vitamin D deficiency in children: a nationwide survey in Japan.

H. Tsukahara, K. Ihara, K. Ozono, 2018, Endocrine journal.

A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2

S. Tsuji, S. Morishita, S. Kitanaka, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Kenny-Caffey syndrome without the CATCH 22 deletion.

T. Yorifuji, A. Uematsu, J. Muroi, 1998, Journal of medical genetics.

A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy.

K. Ihara, T. Maeda, T. Yorifuji, 2018, European journal of medical genetics.

Transforming growth factor β and dexamethasone suppress the expression of Fcϵ receptor 2 (CD23) on a human eosinophilic cell line EoL-3

J. Yodoi, Mayumi Tanaka, T. Yorifuji, 1990 .

Unfavorable effects of growth hormone therapy on the final height of boys with short stature not caused by growth hormone deficiency.

K. Furusho, T. Momoi, H. Sasaki, 1997, The Journal of pediatrics.

Chromosome 6q24-related diabetes mellitus

T. Yorifuji, R. Kawakita, Y. Hosokawa, 2018, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Abnormalities in chromosome 6q24 as a cause of early‐onset, non‐obese, non‐autoimmune diabetes mellitus without history of neonatal diabetes

T. Urakami, T. Yorifuji, Y. Hashimoto, 2015, Diabetic medicine : a journal of the British Diabetic Association.

Further characterization of memory T cells existing in a case of CD8 deficiency.

H. Ueno, T. Yorifuji, K. Katamura, 1999, Human immunology.

Congenital myotonic dystrophy with progressive edema and hypoproteinemia

S. Toyokuni, T. Okuno, T. Yorifuji, 1991, Brain and Development.

Accelerated pubertal onset in short children with delayed bone age

T. Yorifuji, R. Kawakita, S. Higuchi, 2021, Journal of pediatric endocrinology & metabolism : JPEM.

Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy

T. Yorifuji, M. Yoshioka, Izuru Mituyoshi, 1998 .

Growth hormone activates hepatic and cerebral cholesterol metabolism in small-for-gestational age children without catch-up growth.

H. Tsukahara, T. Miida, T. Yorifuji, 2017, Journal of clinical lipidology.

Changes of lipoproteins in phenylalanine hydroxylase-deficient children during the first year of life.

H. Tsukahara, T. Miida, A. Ohtake, 2014, Clinica chimica acta; international journal of clinical chemistry.

Oxysterol changes along with cholesterol and vitamin D changes in adult phenylketonuric patients diagnosed by newborn mass-screening.

H. Tsukahara, T. Miida, A. Ohtake, 2013, Clinica chimica acta; international journal of clinical chemistry.

Diabetes caused by Kir6.2 mutation: Successful treatment with oral glibenclamide switched from continuous subcutaneous insulin infusion in the early phase of the disease

H. Mugishima, T. Urakami, Shori Takahashi, 2012, Pediatrics international : official journal of the Japan Pediatric Society.

Practice guideline for lipodystrophy syndromes-clinically important diseases of the Japan Endocrine Society (JES).

T. Kusakabe, T. Yorifuji, Y. Ogawa, 2021, Endocrine journal.

Molecular and clinical characterization of glucokinase maturity‐onset diabetes of the young (GCK‐MODY) in Japanese patients

T. Urakami, T. Yorifuji, R. Kawakita, 2014, Diabetic medicine : a journal of the British Diabetic Association.

Domperidone With ORT in the Treatment of Pediatric Acute Gastroenteritis in Japan

T. Nakahata, H. Urushihara, K. Kawakami, 2015, Asia-Pacific journal of public health.

Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing

M. Nishi, K. Yoshiura, H. Furuta, 2018, Journal of diabetes investigation.

ApoE4 Determines the Reduction in LDL-C After GH Replacement Therapy in Children With an Idiopathic GH Deficiency.

T. Miida, T. Yorifuji, H. Kondou, 2015, The Journal of clinical endocrinology and metabolism.

Low level of fasting plasma mannose in a child with glycogen storage disease type 0 (liver glycogen synthase deficiency).

T. Murata, T. Yorifuji, H. Nagasaka, 2010, Clinica chimica acta; international journal of clinical chemistry.

Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation.

K. Furusho, T. Okuno, T. Momoi, 1996, Journal of medical genetics.

Skewed X inactivation in manifesting carries of Duchenne muscular dystrophy

T. Yorifuji, M. Yoshioka, Izuru Mituyoshi, 1997, Neuromuscular Disorders.

CD36 deficiency predisposing young children to fasting hypoglycemia.

H. Tsukahara, T. Miida, H. Chiba, 2011, Metabolism: clinical and experimental.

An MRI study of the myelination pattern in West syndrome

T. Okuno, T. Yorifuji, J. Muroi, 1996, Brain and Development.

The effect of cell synchronization on the efficiency of stable gene transfer by electroporation

T. Yorifuji, H. Mikawa, S. Tsuruta, 1989, FEBS letters.

Establishment of a common acute lymphoblastic leukemia cell line (LC4‐1) and effects of phorbol myristate acetate (PMA) on the surface antigen expression of the cell line

T. Heike, T. Yorifuji, H. Mikawa, 1987, American journal of hematology.

Clinical features and management of organic acidemias in Japan

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

Expression of human CD18 in murine granulocytes and improved efficiency for infection of deficient human lymphoblasts.

A. Beaudet, J. Belmont, D. Anderson, 1993, Human gene therapy.

Lasting 18F-DOPA PET Uptake after Clinical Remission of the Focal Form of Congenital Hyperinsulinism

T. Yorifuji, H. Nishibori, R. Kawakita, 2011, Hormone Research in Paediatrics.

Nitric oxide synthesis in ornithine transcarbamylase deficiency: possible involvement of low no synthesis in clinical manifestations of urea cycle defect.

Kunihiko Kobayashi, K. Murayama, T. Yorifuji, 2004, The Journal of pediatrics.

Evaluation of endogenous nitric oxide synthesis in congenital urea cycle enzyme defects.

H. Tsukahara, Kunihiko Kobayashi, T. Miida, 2009, Metabolism: clinical and experimental.

Fatty liver and anti-oxidant enzyme activities along with peroxisome proliferator-activated receptors γ and α expressions in the liver of Wilson's disease.

H. Tsukahara, T. Miida, H. Okajima, 2012, Molecular Genetics and Metabolism.

Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes.

K. Furusho, M. Kaji, T. Momoi, 1998, Journal of medical genetics.

Progressive familial intrahepatic cholestasis: a single‐center experience of living‐donor liver transplantation during two decades in Japan

S. Uemoto, T. Yorifuji, J. Nguyen, 2011, Clinical transplantation.

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation

K. Ozono, N. Okamoto, T. Fukao, 2009, Journal of Human Genetics.

A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation

T. Yamawaki, H. Naito, T. Yorifuji, 2021, Internal medicine.

Living-donor liver transplantation for propionic acidaemia

Y. Kohno, T. Nakahata, K. Tanaka, 2004, Journal of Inherited Metabolic Disease.

Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan

K. Tachibana, Hiroyuki Tanaka, K. Ozono, 2015, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Indian childhood cirrhosis-like disease in a Japanese boy undergoing liver transplantation.

A. Ohtake, K. Tanaka, T. Yorifuji, 1999, Journal of pediatric gastroenterology and nutrition.

Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients.

T. Ogata, K. Tachibana, T. Yorifuji, 2001, The Journal of clinical endocrinology and metabolism.

PCR-based detection of mosaicism in Turner syndrome patients

K. Furusho, T. Momoi, H. Sasaki, 1996, Human Genetics.

Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material

T. Nakahata, M. Kaji, T. Momoi, 2001, Journal of medical genetics.

Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism.

T. Nakahata, T. Yorifuji, M. Kawai, 2004, The Journal of clinical endocrinology and metabolism.

Identification of clinical factors related to antibody‐mediated immune response to the subfornical organ

E. Hoorn, N. Goshima, T. Yorifuji, 2022, Clinical endocrinology.

Metabolism and Toxicity of Electroporated 1‐β‐d‐Arabinofuranosylcytosine Triphosphate in a Human Leukemia Cell Line

T. Yorifuji, H. Mikawa, M. Kubota, 1990, Japanese journal of cancer research : Gann.

The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline

D. Dunger, N. Patni, M. Wabitsch, 2016, The Journal of clinical endocrinology and metabolism.

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

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

Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency

Kunihiko Kobayashi, Shigenori Yamamoto, K. Murayama, 2006, European Journal of Pediatrics.

Congenital hyperinsulinism: Global and Japanese perspectives

T. Yorifuji, H. Nishibori, M. Masue, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

Congenital hyperinsulinism: current status and future perspectives

T. Yorifuji, 2014, Annals of pediatric endocrinology & metabolism.

A nationwide questionnaire survey targeting Japanese pediatric endocrinologists regarding transitional care in childhood, adolescent, and young adult cancer survivors

C. Shimizu, K. Ozono, T. Yorifuji, 2020, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Growth Hormone Treatment Does Not Improve Prepubertal Growth in Russell-Silver Syndrome

M. Kaji, T. Momoi, H. Sasaki, 1991 .

Three Novel Mutations in Japanese Patients with 21-Hydroxylase Deficiency

H. Kuzuya, A. Shimatsu, M. Kaji, 2004, Hormone Research in Paediatrics.

Co-transfer of restriction endonucleases and plasmid DNA into mammalian cells by electroporation: effects on stable transformation.

T. Yorifuji, H. Mikawa, 1990, Mutation research.

Molecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: predominance of paternally inherited monoallelic mutations in the KATP channel genes.

A. Yoshizawa, R. Doi, S. Uemoto, 2011, The Journal of clinical endocrinology and metabolism.

The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.

Yuichiro Yamada, T. Nakahata, N. Inagaki, 2005, The Journal of clinical endocrinology and metabolism.

Diagnostic accuracy of [18F]‐fluoro‐l‐dihydroxyphenylalanine positron emission tomography scan for persistent congenital hyperinsulinism in Japan

A. Yoshizawa, R. Doi, S. Uemoto, 2011, Clinical endocrinology.

DEND syndrome due to V59A mutation in KCNJ11 gene: unresponsive to sulfonylureas

S. Sugihara, H. Matsuoka, T. Yorifuji, 2013, Journal of pediatric endocrinology & metabolism : JPEM.

Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?

T. Okuno, T. Yorifuji, J. Muroi, 1994, Journal of medical genetics.

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

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

Three years of liraglutide treatment offers continuously optimal glycemic control in a pediatric patient with maturity-onset diabetes of the young type 3

T. Urakami, Shori Takahashi, T. Yorifuji, 2014, Journal of pediatric endocrinology & metabolism : JPEM.

Successful living-donor liver transplantation from an asymptomatic carrier mother in ornithine transcarbamylase deficiency.

T. Yorifuji, H. Egawa, H. Kikuta, 2001, The Journal of pediatrics.

Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics

H. Hiramatsu, T. Momoi, T. Yorifuji, 1999, Human Genetics.

Living‐donor liver transplantation for propionic acidemia

R. Kosaki, T. Yorifuji, Y. Naiki, 2012, Pediatric transplantation.

Case Report: A Difficult-to-Diagnose Case of Hyperinsulinemic Hypoglycemia Surgically Treated After Developing Acute Pancreatitis

E. Gabazza, T. Yorifuji, T. Yasuma, 2021, Frontiers in Endocrinology.

Efficacy and safety of long‐term, continuous subcutaneous octreotide infusion for patients with different subtypes of KATP‐channel hyperinsulinism

T. Yorifuji, H. Nishibori, R. Kawakita, 2013, Clinical endocrinology.

Resistance to Parathyroid Hormone in Two Patients with Familial Intrahepatic Cholestasis: Possible Involvement of the ATP8B1 Gene in Calcium Regulation via Parathyroid Hormone

M. Hasegawa, Kunihiko Kobayashi, K. Murayama, 2004, Journal of pediatric gastroenterology and nutrition.

Acute Myeloid Leukemia With RBM15-MKL1 Presenting as Severe Hepatic Failure

T. Yorifuji, K. Yamasaki, R. Kawakita, 2017, Global pediatric health.

Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations

T. Heike, M. Matsuura, H. Nakase, 2017, Medicine.

Prevalence of Mutations in the FGFR3 Gene in Individuals with Idiopathic Short Stature

T. Nakahata, T. Momoi, T. Yorifuji, 2006, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Prevalence of Mutations in the FGFR 3 Gene in Individuals with Idiopathic Short Stature

T. Nakahata, T. Momoi, T. Yorifuji, 2006 .

Wilms tumour in a patient with growth hormone replacement therapy

K. Tanaka, M. Kaji, H. Sasaki, 1989, European Journal of Pediatrics.

Favorable effect of 4-phenylacetate on liver functions attributable to enhanced bile salt export pump expression in ornithine transcarbamylase-deficient children.

H. Tsukahara, Kunihiko Kobayashi, T. Miida, 2010, Molecular Genetics and Metabolism.

Safety Outcomes During Pediatric GH Therapy: Final Results From the Prospective GeNeSIS Observational Program

M. Maghnie, G. Chrousos, M. Polak, 2018, The Journal of clinical endocrinology and metabolism.

Metabolic improvements in intrahepatic porto-systemic venous shunt presenting various metabolic abnormalities by 4-phenylacetate.

H. Tsukahara, T. Miida, T. Yorifuji, 2013, Clinica chimica acta; international journal of clinical chemistry.

Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction.

K. Hayasaka, T. Yorifuji, Y. Hashimoto, 2015, Diabetes research and clinical practice.

Neurohypophyseal function of an ectopic posterior lobe in patients with growth hormone deficiency.

J. Konishi, M. Kaji, T. Momoi, 1990, Acta endocrinologica.

MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene.

T. Yorifuji, K. Miya, H. Matsukura, 2017, Clinical Nephrology.

Fv-1 determinants in xenotropic murine leukemia viruses studied with biological assay systems: Isolation of xenotropic virus with N-tropic Fv-1 activity in the cryptic form

A. Ishimoto, T. Yorifuji, A. Adachi, 1982, Journal of virology.

A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency.

K. Fujieda, T. Yorifuji, T. Tajima, 2009, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Efficacy and Safety of Once-Weekly Somatrogon Compared with Once-Daily Somatropin (Genotropin®) in Japanese Children with Pediatric Growth Hormone Deficiency: Results from a Randomized Phase 3 Study

T. Yorifuji, Y. Hasegawa, R. Rosenfeld, 2022, Hormone Research in Paediatrics.

Phase 3 Study Evaluating Once Weekly Somatrogon Compared to Daily Genotropin in Japanese Patients With Pediatric Growth Hormone Deficiency (pGHD)

Toshiaki Tanaka, T. Yorifuji, Y. Hasegawa, 2021, Journal of the Endocrine Society.

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.

Liver transplantation in a case of hypoproteinemia and coagulopathy

S. Uemoto, H. Hattori, K. Furusho, 1998, Acta paediatrica Japonica : Overseas edition.

Preoperative diagnosis of congenital segmental giant megaureter presenting as a fetal abdominal mass.

H. Nishiyama, O. Ogawa, A. Kanematsu, 2010, Journal of pediatric surgery.

Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency

T. Nakahata, Keiko Kobayashi, Shigenori Yamamoto, 2007, Journal of Human Genetics.

Lipoprotein profiles in children with two common cholesteryl ester transfer protein gene mutations, D442G and I14A, during the first year of life.

H. Tsukahara, Kunihiko Kobayashi, T. Miida, 2009, Clinica chimica acta; international journal of clinical chemistry.

Low Frequencies of Autoimmunity-Associated PTPN22 Polymorphisms in MODY Patients, Including Those Transiently Expressing Islet Cell Autoantibodies

P. Heneberg, T. Yorifuji, Y. Lebenthal, 2015, International Archives of Allergy and Immunology.

Congenital hyperinsulinism treated by surgical resection of the hyperplastic lesion which had been preoperatively diagnosed by 18F-DOPA PET examination in Japan: a nationwide survey

T. Yorifuji, M. Nio, Y. Kanamori, 2018, Pediatric surgery international.

Clinical characteristics of insulin resistance syndromes: A nationwide survey in Japan

T. Akamizu, W. Ogawa, H. Katagiri, 2019, Journal of diabetes investigation.

New classification and diagnostic criteria for insulin resistance syndrome

T. Yamauchi, H. Maegawa, H. Katagiri, 2022, Diabetology International.

High Prevalence of Severe Circulatory Complications with Diazoxide in Premature Infants

T. Heike, T. Yorifuji, M. Kawai, 2014, Neonatology.

Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency

T. Nakahata, T. Yorifuji, A. Uematsu, 2000, Human Genetics.

SRD5B1 gene analysis needed for the accurate diagnosis of primary 3‐oxo‐Δ4‐steroid 5β‐reductase deficiency

T. Matsuishi, S. Itoh, H. Nittono, 2009, Journal of gastroenterology and hepatology.

Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10

Y. Okazaki, A. Ohtake, K. Murayama, 2019, Journal of pediatric endocrinology & metabolism : JPEM.

Growth Hormone Therapy Does not Improve the Final Height of Girls with Short Stature not Caused by Growth Hormone Deficiency

K. Furusho, T. Momoi, H. Sasaki, 1998 .

Infantile convulsions and paroxysmal kinesigenic choreoathetosis in a patient with idiopathic hypoparathyroidism

H. Hattori, T. Yorifuji, 2000, Brain and Development.

Nationwide survey of endogenous hyperinsulinemic hypoglycemia in Japan (2017–2018): Congenital hyperinsulinism, insulinoma, non‐insulinoma pancreatogenous hypoglycemia syndrome and insulin autoimmune syndrome (Hirata’s disease)

T. Yorifuji, R. Kawakita, Y. Kanamori, 2019, Journal of diabetes investigation.

Testicular thecoma in an 11-year-old boy with nevoid basal-cell carcinoma syndrome (Gorlin syndrome).

H. Nishiyama, O. Ogawa, T. Kamoto, 2010, Journal of pediatric surgery.

Chromosome 6q24 methylation defects are uncommon in childhood-onset non-autoimmune diabetes mellitus patients born appropriate- or large-for-gestational age

T. Ogata, I. Yokota, T. Kawamura, 2016, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Cerebral infarction and pancreatitis: possible complications of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

T. Nakahata, T. Yorifuji, A. Uematsu, 2000, Journal of Inherited Metabolic Disease.

Sustained high plasma mannose less sensitive to fluctuating blood glucose in glycogen storage disease type Ia children

H. Tsukahara, T. Miida, A. Ohtake, 2013, Journal of Inherited Metabolic Disease.

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia

N. Matsumoto, T. Morisaki, H. Morisaki, 2021, BMC medical genomics.

Molecular and clinical features of KATP‐channel neonatal diabetes mellitus in Japan

Masakazu Hirose, T. Urakami, S. Sugihara, 2017, Pediatric diabetes.

Targeted gene panel analysis of Japanese patients with maturity‐onset diabetes of the young‐like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes

T. Yorifuji, S. Higuchi, Y. Watanabe, 2022, Journal of diabetes investigation.

Nephrogenic diabetes insipidus and tethered cord syndrome with a lipoma of the cauda equina

T. Yorifuji, Masatoshi Ito, T. Ueda, 1998, Brain and Development.

T. Nakahata, T. Yorifuji, H. Egawa, 2000 .

Genetic basis of early‐onset, maturity‐onset diabetes of the young‐like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance

T. Yorifuji, R. Kawakita, Y. Hosokawa, 2018, Pediatric diabetes.

Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk

Kunihiko Kobayashi, T. Miida, A. Ohtake, 2007, European Journal of Pediatrics.

Growth Hormone Treatment for Achondroplasia.

T. Yorifuji, R. Kawakita, S. Higuchi, 2018, Pediatric Endocrinology Reviews: diabetes, nutrition, metabolism.

Focal form of congenital hyperinsulinism clearly detectable by contrast-enhanced computed tomography imaging

Tetsuro Nakamura, T. Yorifuji, H. Nishibori, 2015, International Journal of Pediatric Endocrinology.

Oculofaciocardiodental syndrome caused by a novel BCOR variant

K. Kosaki, T. Takenouchi, T. Yorifuji, 2023, Human genome variation.

Infantile convulsions and paroxysmal kinesigenic choreoathetosis in a patient with idiopathic hypoparathyroidism.

H. Hattori, T. Yorifuji, 2000 .

Relatively longer hand in patients with Ullrich-Turner syndrome.

T. Momoi, C. Yamanaka, T. Yorifuji, 1999, American journal of medical genetics.

Craniotabes in normal newborns: the earliest sign of subclinical vitamin D deficiency.

T. Nakahata, H. Hatayama, T. Momoi, 2008, Journal of Clinical Endocrinology and Metabolism.

The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline

D. Dunger, N. Patni, M. Wabitsch, 2016, The Journal of clinical endocrinology and metabolism.

Fluctuation of lipoprotein metabolism linked with bile acid-activated liver nuclear receptors in Alagille syndrome.

H. Tsukahara, T. Miida, K. Murayama, 2008, Atherosclerosis.

Treatment with medium chain fatty acids milk of CD36-deficient preschool children.

T. Miida, T. Yorifuji, I. Morioka, 2017, Nutrition.

Y Chromosome Specific DNA Probe in the Diagnosis of a Patient with mos 45, X/46, XYnf

M. Kaji, T. Momoi, C. Yamanaka, 1989, Acta paediatrica Japonica : Overseas edition.

SRD5B1 gene analysis needed for the accurate diagnosis of primary 3‐oxo‐Δ4‐steroid 5β‐reductase deficiency

T. Matsuishi, S. Itoh, H. Nittono, 2009, Journal of gastroenterology and hepatology.

International Guidelines for the Diagnosis and Management of Hyperinsulinism

C. Stanley, A. Vella, S. Flanagan, 2023, Hormone Research in Paediatrics.

Fibrillin I gene polymorphism is associated with tall stature of normal individuals

T. Nakahata, T. Momoi, T. Yorifuji, 2006, Human Genetics.